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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: 16-67658190-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67658190&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67658190,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000620761.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Ser334Ser",
"transcript": "NM_001082486.2",
"protein_id": "NP_001075955.2",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 458,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1511,
"mane_select": "ENST00000620761.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Ser334Ser",
"transcript": "ENST00000620761.6",
"protein_id": "ENSP00000478084.1",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 458,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1511,
"mane_select": "NM_001082486.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Ser334Ser",
"transcript": "ENST00000695659.1",
"protein_id": "ENSP00000512089.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 464,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.993C>T",
"hgvs_p": "p.Ser331Ser",
"transcript": "NM_022914.3",
"protein_id": "NP_075065.3",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 455,
"cds_start": 993,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.993C>T",
"hgvs_p": "p.Ser331Ser",
"transcript": "ENST00000219251.13",
"protein_id": "ENSP00000219251.8",
"transcript_support_level": 2,
"aa_start": 331,
"aa_end": null,
"aa_length": 455,
"cds_start": 993,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.984C>T",
"hgvs_p": "p.Ser328Ser",
"transcript": "ENST00000695648.1",
"protein_id": "ENSP00000512081.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 452,
"cds_start": 984,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Ser334Ser",
"transcript": "ENST00000695734.1",
"protein_id": "ENSP00000512127.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 451,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.957C>T",
"hgvs_p": "p.Ser319Ser",
"transcript": "ENST00000695694.1",
"protein_id": "ENSP00000512105.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 443,
"cds_start": 957,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.993C>T",
"hgvs_p": "p.Ser331Ser",
"transcript": "ENST00000602320.1",
"protein_id": "ENSP00000473679.2",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 442,
"cds_start": 993,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Ser305Ser",
"transcript": "NM_001410884.1",
"protein_id": "NP_001397813.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 429,
"cds_start": 915,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Ser305Ser",
"transcript": "ENST00000695697.1",
"protein_id": "ENSP00000512106.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 429,
"cds_start": 915,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.2001C>T",
"hgvs_p": null,
"transcript": "ENST00000602622.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.134C>T",
"hgvs_p": null,
"transcript": "ENST00000602656.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.2007C>T",
"hgvs_p": null,
"transcript": "ENST00000602780.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.*782C>T",
"hgvs_p": null,
"transcript": "ENST00000602850.6",
"protein_id": "ENSP00000473595.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1922C>T",
"hgvs_p": null,
"transcript": "ENST00000602860.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.2111C>T",
"hgvs_p": null,
"transcript": "ENST00000695641.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1830C>T",
"hgvs_p": null,
"transcript": "ENST00000695656.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1320C>T",
"hgvs_p": null,
"transcript": "ENST00000695657.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1626C>T",
"hgvs_p": null,
"transcript": "ENST00000695660.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.*481C>T",
"hgvs_p": null,
"transcript": "ENST00000695662.1",
"protein_id": "ENSP00000512091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1068C>T",
"hgvs_p": null,
"transcript": "ENST00000695695.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1252C>T",
"hgvs_p": null,
"transcript": "ENST00000695698.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.168,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000620761.6",
"gene_symbol": "ACD",
"hgnc_id": 25070,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Ser334Ser"
}
],
"clinvar_disease": " autosomal dominant 6,Dyskeratosis congenita,Inborn genetic diseases,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|Inborn genetic diseases|Dyskeratosis congenita, autosomal dominant 6",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}