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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: 22-19963756-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19963756&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19963756,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000754.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "NM_000754.4",
"protein_id": "NP_000745.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 271,
"cds_start": 480,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361682.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000754.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000361682.11",
"protein_id": "ENSP00000354511.6",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 271,
"cds_start": 480,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000754.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361682.11"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000406520.7",
"protein_id": "ENSP00000385150.3",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 271,
"cds_start": 480,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406520.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Asp110Glu",
"transcript": "ENST00000449653.5",
"protein_id": "ENSP00000416778.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 221,
"cds_start": 330,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449653.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000964897.1",
"protein_id": "ENSP00000634956.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 337,
"cds_start": 480,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964897.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000678769.1",
"protein_id": "ENSP00000503289.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 302,
"cds_start": 480,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678769.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000852829.1",
"protein_id": "ENSP00000522888.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 302,
"cds_start": 480,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852829.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000964899.1",
"protein_id": "ENSP00000634958.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 302,
"cds_start": 480,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964899.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000964895.1",
"protein_id": "ENSP00000634954.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 300,
"cds_start": 480,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964895.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000852828.1",
"protein_id": "ENSP00000522887.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 297,
"cds_start": 480,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852828.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000852830.1",
"protein_id": "ENSP00000522889.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 297,
"cds_start": 480,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852830.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000964894.1",
"protein_id": "ENSP00000634953.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 297,
"cds_start": 480,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964894.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000964896.1",
"protein_id": "ENSP00000634955.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 297,
"cds_start": 480,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964896.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000964898.1",
"protein_id": "ENSP00000634957.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 297,
"cds_start": 480,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964898.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000428707.2",
"protein_id": "ENSP00000387695.2",
"transcript_support_level": 3,
"aa_start": 160,
"aa_end": null,
"aa_length": 292,
"cds_start": 480,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428707.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000964893.1",
"protein_id": "ENSP00000634952.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 275,
"cds_start": 480,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964893.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "NM_001135161.2",
"protein_id": "NP_001128633.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 271,
"cds_start": 480,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135161.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "NM_001135162.2",
"protein_id": "NP_001128634.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 271,
"cds_start": 480,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135162.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "NM_001362828.2",
"protein_id": "NP_001349757.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 271,
"cds_start": 480,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362828.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000403710.5",
"protein_id": "ENSP00000385917.1",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 271,
"cds_start": 480,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403710.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000407537.5",
"protein_id": "ENSP00000384654.2",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 271,
"cds_start": 480,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407537.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.480C>G",
"hgvs_p": "p.Asp160Glu",
"transcript": "ENST00000676678.1",
"protein_id": "ENSP00000503719.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 271,
"cds_start": 480,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676678.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
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{
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],
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Tramadol response",
"pathogenicity_classification_combined": "drug response",
"custom_annotations": null
}
],
"message": null
}