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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: 22-19962712-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19962712&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19962712,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000754.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "NM_000754.4",
"protein_id": "NP_000745.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 271,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000361682.11",
"protein_id": "ENSP00000354511.6",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 271,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000406520.7",
"protein_id": "ENSP00000385150.3",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 271,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.His12His",
"transcript": "ENST00000449653.5",
"protein_id": "ENSP00000416778.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 221,
"cds_start": 36,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000964897.1",
"protein_id": "ENSP00000634956.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 337,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000678769.1",
"protein_id": "ENSP00000503289.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 302,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000852829.1",
"protein_id": "ENSP00000522888.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 302,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000964899.1",
"protein_id": "ENSP00000634958.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 302,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000964895.1",
"protein_id": "ENSP00000634954.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 300,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000852828.1",
"protein_id": "ENSP00000522887.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 297,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000852830.1",
"protein_id": "ENSP00000522889.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 297,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000964894.1",
"protein_id": "ENSP00000634953.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 297,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000964896.1",
"protein_id": "ENSP00000634955.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 297,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000964898.1",
"protein_id": "ENSP00000634957.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 297,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000428707.2",
"protein_id": "ENSP00000387695.2",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 292,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000964893.1",
"protein_id": "ENSP00000634952.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 275,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "NM_001135161.2",
"protein_id": "NP_001128633.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 271,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "NM_001135162.2",
"protein_id": "NP_001128634.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 271,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "NM_001362828.2",
"protein_id": "NP_001349757.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 271,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000403710.5",
"protein_id": "ENSP00000385917.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 271,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000407537.5",
"protein_id": "ENSP00000384654.2",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 271,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMT",
"gene_hgnc_id": 2228,
"hgvs_c": "c.186C>T",
"hgvs_p": "p.His62His",
"transcript": "ENST00000676678.1",
"protein_id": "ENSP00000503719.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 271,
"cds_start": 186,
"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": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"computational_score_selected": -0.6899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.826,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000754.4",
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"hgnc_id": 2228,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Tramadol response,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|Tramadol response|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}