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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: 3-25598348-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=25598348&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TOP2B",
"hgnc_id": 11990,
"hgvs_c": "c.4840G>T",
"hgvs_p": "p.Asp1614Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001330700.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.4037,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7782657146453857,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1626,
"aa_ref": "D",
"aa_start": 1614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5814,
"cdna_start": 5450,
"cds_end": null,
"cds_length": 4881,
"cds_start": 4840,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001330700.2",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "c.4840G>T",
"hgvs_p": "p.Asp1614Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264331.9",
"protein_coding": true,
"protein_id": "NP_001317629.1",
"strand": false,
"transcript": "NM_001330700.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1626,
"aa_ref": "D",
"aa_start": 1614,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5814,
"cdna_start": 5450,
"cds_end": null,
"cds_length": 4881,
"cds_start": 4840,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000264331.9",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "c.4840G>T",
"hgvs_p": "p.Asp1614Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330700.2",
"protein_coding": true,
"protein_id": "ENSP00000264331.4",
"strand": false,
"transcript": "ENST00000264331.9",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1621,
"aa_ref": "D",
"aa_start": 1609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5863,
"cdna_start": 5501,
"cds_end": null,
"cds_length": 4866,
"cds_start": 4825,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000435706.7",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "c.4825G>T",
"hgvs_p": "p.Asp1609Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396704.2",
"strand": false,
"transcript": "ENST00000435706.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1593,
"aa_ref": "D",
"aa_start": 1581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5160,
"cdna_start": 4816,
"cds_end": null,
"cds_length": 4782,
"cds_start": 4741,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000424225.2",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "c.4741G>T",
"hgvs_p": "p.Asp1581Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391112.2",
"strand": false,
"transcript": "ENST00000424225.2",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1621,
"aa_ref": "D",
"aa_start": 1609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5343,
"cdna_start": 4900,
"cds_end": null,
"cds_length": 4866,
"cds_start": 4825,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001068.3",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "c.4825G>T",
"hgvs_p": "p.Asp1609Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001059.2",
"strand": false,
"transcript": "NM_001068.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1601,
"aa_ref": "D",
"aa_start": 1589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5739,
"cdna_start": 5375,
"cds_end": null,
"cds_length": 4806,
"cds_start": 4765,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000854208.1",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "c.4765G>T",
"hgvs_p": "p.Asp1589Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524267.1",
"strand": false,
"transcript": "ENST00000854208.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "D",
"aa_start": 1572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5687,
"cdna_start": 5324,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4714,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000957358.1",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "c.4714G>T",
"hgvs_p": "p.Asp1572Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627417.1",
"strand": false,
"transcript": "ENST00000957358.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "D",
"aa_start": 1568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5659,
"cdna_start": 5312,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4702,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000957360.1",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "c.4702G>T",
"hgvs_p": "p.Asp1568Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627419.1",
"strand": false,
"transcript": "ENST00000957360.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1556,
"aa_ref": "D",
"aa_start": 1544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5596,
"cdna_start": 5240,
"cds_end": null,
"cds_length": 4671,
"cds_start": 4630,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000957359.1",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "c.4630G>T",
"hgvs_p": "p.Asp1544Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627418.1",
"strand": false,
"transcript": "ENST00000957359.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1554,
"aa_ref": "D",
"aa_start": 1542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5599,
"cdna_start": 5234,
"cds_end": null,
"cds_length": 4665,
"cds_start": 4624,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000854207.1",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "c.4624G>T",
"hgvs_p": "p.Asp1542Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524266.1",
"strand": false,
"transcript": "ENST00000854207.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1589,
"aa_ref": "D",
"aa_start": 1577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5782,
"cdna_start": 5339,
"cds_end": null,
"cds_length": 4770,
"cds_start": 4729,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_011534057.4",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "c.4729G>T",
"hgvs_p": "p.Asp1577Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532359.1",
"strand": false,
"transcript": "XM_011534057.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1584,
"aa_ref": "D",
"aa_start": 1572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5767,
"cdna_start": 5324,
"cds_end": null,
"cds_length": 4755,
"cds_start": 4714,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_047448821.1",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "c.4714G>T",
"hgvs_p": "p.Asp1572Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304777.1",
"strand": false,
"transcript": "XM_047448821.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000413971.5",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "n.*1472G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000388216.1",
"strand": false,
"transcript": "ENST00000413971.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4109,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000470132.2",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "n.3739G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000470132.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000699028.1",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "n.1703G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000699028.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000699029.1",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "n.3770G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000699029.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3316,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000699030.1",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "n.2946G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000699030.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5473,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000699031.1",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "n.5103G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000699031.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7848,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000699032.1",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "n.7478G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000699032.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5581,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000699033.1",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "n.5211G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000699033.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000699034.1",
"gene_hgnc_id": 11990,
"gene_symbol": "TOP2B",
"hgvs_c": "n.1597G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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