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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: 2-73902420-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73902420&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"stop_gained"
],
"gene_symbol": "ACTG2",
"hgnc_id": 145,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001615.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 267,
"cds_end": null,
"cds_length": 1131,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001615.4",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345517.8",
"protein_coding": true,
"protein_id": "NP_001606.1",
"strand": true,
"transcript": "NM_001615.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 267,
"cds_end": null,
"cds_length": 1131,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000345517.8",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001615.4",
"protein_coding": true,
"protein_id": "ENSP00000295137.3",
"strand": true,
"transcript": "ENST00000345517.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 119,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 927,
"cdna_start": 293,
"cds_end": null,
"cds_length": 360,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000409918.5",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387182.1",
"strand": true,
"transcript": "ENST00000409918.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 405,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 270,
"cds_end": null,
"cds_length": 1218,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000880128.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550187.1",
"strand": true,
"transcript": "ENST00000880128.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 402,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1392,
"cdna_start": 295,
"cds_end": null,
"cds_length": 1209,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000958365.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628424.1",
"strand": true,
"transcript": "ENST00000958365.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1131,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000409624.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386857.1",
"strand": true,
"transcript": "ENST00000409624.1",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1282,
"cdna_start": 260,
"cds_end": null,
"cds_length": 1131,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000880130.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550189.1",
"strand": true,
"transcript": "ENST00000880130.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1409,
"cdna_start": 389,
"cds_end": null,
"cds_length": 1131,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880131.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550190.1",
"strand": true,
"transcript": "ENST00000880131.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1131,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000880132.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550191.1",
"strand": true,
"transcript": "ENST00000880132.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1488,
"cdna_start": 468,
"cds_end": null,
"cds_length": 1131,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000958362.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628421.1",
"strand": true,
"transcript": "ENST00000958362.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 412,
"cds_end": null,
"cds_length": 1131,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000958366.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628425.1",
"strand": true,
"transcript": "ENST00000958366.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1131,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000958368.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628427.1",
"strand": true,
"transcript": "ENST00000958368.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1131,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000958370.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628429.1",
"strand": true,
"transcript": "ENST00000958370.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1344,
"cdna_start": 325,
"cds_end": null,
"cds_length": 1131,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000958371.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628430.1",
"strand": true,
"transcript": "ENST00000958371.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1131,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000958372.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628431.1",
"strand": true,
"transcript": "ENST00000958372.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 424,
"cds_end": null,
"cds_length": 1131,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000958373.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628432.1",
"strand": true,
"transcript": "ENST00000958373.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1288,
"cdna_start": 270,
"cds_end": null,
"cds_length": 1128,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000958367.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628426.1",
"strand": true,
"transcript": "ENST00000958367.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 344,
"aa_ref": "R",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 174,
"cds_end": null,
"cds_length": 1035,
"cds_start": 91,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000880129.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Arg31*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550188.1",
"strand": true,
"transcript": "ENST00000880129.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 339,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": 301,
"cds_end": null,
"cds_length": 1020,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000958364.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628423.1",
"strand": true,
"transcript": "ENST00000958364.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 322,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1130,
"cdna_start": 270,
"cds_end": null,
"cds_length": 969,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000880127.1",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550186.1",
"strand": true,
"transcript": "ENST00000880127.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 143,
"aa_ref": "R",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 540,
"cdna_start": 293,
"cds_end": null,
"cds_length": 434,
"cds_start": 187,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000442912.5",
"gene_hgnc_id": 145,
"gene_symbol": "ACTG2",
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410020.1",
"strand": true,
"transcript": "ENST00000442912.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 362,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
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