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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: 7-75986163-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=75986163&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "POR",
"hgnc_id": 9208,
"hgvs_c": "c.1865A>G",
"hgvs_p": "p.Tyr622Cys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_001382655.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 14,
"allele_count_reference_population": 120,
"alphamissense_prediction": null,
"alphamissense_score": 0.9644,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "7",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Congenital adrenal hyperplasia,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:5",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9119674563407898,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001395413.1",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Tyr604Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000461988.6",
"protein_coding": true,
"protein_id": "NP_001382342.1",
"strand": true,
"transcript": "NM_001395413.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000461988.6",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Tyr604Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001395413.1",
"protein_coding": true,
"protein_id": "ENSP00000419970.2",
"strand": true,
"transcript": "ENST00000461988.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 724,
"aa_ref": "Y",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1970,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000447222.5",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1970A>G",
"hgvs_p": "p.Tyr657Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393527.1",
"strand": true,
"transcript": "ENST00000447222.5",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 695,
"aa_ref": "Y",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 1903,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1865,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001382655.3",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1865A>G",
"hgvs_p": "p.Tyr622Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369584.2",
"strand": true,
"transcript": "NM_001382655.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 686,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000910548.1",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Tyr604Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580607.1",
"strand": true,
"transcript": "ENST00000910548.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 683,
"aa_ref": "Y",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 1865,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1829,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000910554.1",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1829A>G",
"hgvs_p": "p.Tyr610Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580613.1",
"strand": true,
"transcript": "ENST00000910554.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 683,
"aa_ref": "Y",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 1865,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1829,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000910556.1",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1829A>G",
"hgvs_p": "p.Tyr610Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580615.1",
"strand": true,
"transcript": "ENST00000910556.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 680,
"aa_ref": "Y",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": 1954,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000706545.1",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1820A>G",
"hgvs_p": "p.Tyr607Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516443.1",
"strand": true,
"transcript": "ENST00000706545.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 680,
"aa_ref": "Y",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 2320,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000706546.1",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1820A>G",
"hgvs_p": "p.Tyr607Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516444.1",
"strand": true,
"transcript": "ENST00000706546.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 680,
"aa_ref": "Y",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3022,
"cdna_start": 2436,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000706547.1",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1820A>G",
"hgvs_p": "p.Tyr607Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516445.1",
"strand": true,
"transcript": "ENST00000706547.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2553,
"cdna_start": 1956,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001367562.3",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Tyr604Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354491.2",
"strand": true,
"transcript": "NM_001367562.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2544,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001382657.2",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Tyr604Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369586.2",
"strand": true,
"transcript": "NM_001382657.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001382658.3",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Tyr604Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369587.2",
"strand": true,
"transcript": "NM_001382658.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2480,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001382659.3",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Tyr604Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369588.2",
"strand": true,
"transcript": "NM_001382659.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": 1882,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000910546.1",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Tyr604Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580605.1",
"strand": true,
"transcript": "ENST00000910546.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2564,
"cdna_start": 1968,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000910549.1",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Tyr604Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580608.1",
"strand": true,
"transcript": "ENST00000910549.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": 1961,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000910550.1",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Tyr604Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580609.1",
"strand": true,
"transcript": "ENST00000910550.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 677,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 2435,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000910551.1",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Tyr604Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580610.1",
"strand": true,
"transcript": "ENST00000910551.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2605,
"cdna_start": 2008,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000910552.1",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Tyr604Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580611.1",
"strand": true,
"transcript": "ENST00000910552.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": 2060,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000910553.1",
"gene_hgnc_id": 9208,
"gene_symbol": "POR",
"hgvs_c": "c.1811A>G",
"hgvs_p": "p.Tyr604Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580612.1",
"strand": true,
"transcript": "ENST00000910553.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1965,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
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{
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},
{
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"biotype": "nonsense_mediated_decay",
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"consequences": [
"3_prime_UTR_variant"
],
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"feature": "ENST00000412064.6",
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"protein_id": "ENSP00000404731.3",
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{
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],
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],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs72557954",
"effect": "missense_variant",
"frequency_reference_population": 0.00007451028,
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"gene_symbol": "POR",
"gnomad_exomes_ac": 117,
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"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "not provided|Congenital adrenal hyperplasia|Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency;Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency;Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.597,
"pos": 75986163,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.752,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001382655.3"
}
]
}