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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: 7-44114886-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44114886&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "POLD2",
"hgnc_id": 9176,
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_006230.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 28,
"alphamissense_prediction": null,
"alphamissense_score": 0.6841,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.12,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7856996655464172,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1609,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_006230.4",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000610533.6",
"protein_coding": true,
"protein_id": "NP_006221.3",
"strand": false,
"transcript": "NM_006230.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1609,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000610533.6",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006230.4",
"protein_coding": true,
"protein_id": "ENSP00000480186.2",
"strand": false,
"transcript": "ENST00000610533.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1659,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000452185.5",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395231.1",
"strand": false,
"transcript": "ENST00000452185.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "A",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1627,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881309.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Ala446Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551368.1",
"strand": false,
"transcript": "ENST00000881309.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "A",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964235.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Ala446Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634294.1",
"strand": false,
"transcript": "ENST00000964235.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001127218.3",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120690.1",
"strand": false,
"transcript": "NM_001127218.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 1999,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001256879.2",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243808.1",
"strand": false,
"transcript": "NM_001256879.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 1959,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000406581.6",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386105.2",
"strand": false,
"transcript": "ENST00000406581.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1676,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000418438.2",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406702.2",
"strand": false,
"transcript": "ENST00000418438.2",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000698945.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514051.1",
"strand": false,
"transcript": "ENST00000698945.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 2105,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000698946.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514052.1",
"strand": false,
"transcript": "ENST00000698946.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000698947.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514053.1",
"strand": false,
"transcript": "ENST00000698947.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881299.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551358.1",
"strand": false,
"transcript": "ENST00000881299.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 1625,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881300.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551359.1",
"strand": false,
"transcript": "ENST00000881300.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": 1581,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881304.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551363.1",
"strand": false,
"transcript": "ENST00000881304.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881305.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551364.1",
"strand": false,
"transcript": "ENST00000881305.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881316.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551375.1",
"strand": false,
"transcript": "ENST00000881316.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 2685,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881321.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551380.1",
"strand": false,
"transcript": "ENST00000881321.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881322.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551381.1",
"strand": false,
"transcript": "ENST00000881322.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1646,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881323.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551382.1",
"strand": false,
"transcript": "ENST00000881323.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000931682.1",
"gene_hgnc_id": 9176,
"gene_symbol": "POLD2",
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