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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: 2-75493308-GC-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=75493308&ref=GC&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EVA1A",
"hgnc_id": 25816,
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_032181.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 838,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001135032.2",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393913.8",
"protein_coding": true,
"protein_id": "NP_001128504.1",
"strand": false,
"transcript": "NM_001135032.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 838,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393913.8",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001135032.2",
"protein_coding": true,
"protein_id": "ENSP00000377490.3",
"strand": false,
"transcript": "ENST00000393913.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 171,
"aa_ref": "R",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 634,
"cds_end": null,
"cds_length": 516,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910300.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.443_444delGCinsCA",
"hgvs_p": "p.Arg148Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580359.1",
"strand": false,
"transcript": "ENST00000910300.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 171,
"aa_ref": "R",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1453,
"cdna_start": 611,
"cds_end": null,
"cds_length": 516,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910305.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.443_444delGCinsCA",
"hgvs_p": "p.Arg148Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580364.1",
"strand": false,
"transcript": "ENST00000910305.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1969,
"cdna_start": 979,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369524.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356453.1",
"strand": false,
"transcript": "NM_001369524.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1916,
"cdna_start": 926,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369525.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356454.1",
"strand": false,
"transcript": "NM_001369525.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 822,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032181.3",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115557.1",
"strand": false,
"transcript": "NM_032181.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 825,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000233712.5",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000233712.1",
"strand": false,
"transcript": "ENST00000233712.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 777,
"cdna_start": 620,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000410071.5",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386930.1",
"strand": false,
"transcript": "ENST00000410071.5",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": 925,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000410113.5",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386435.1",
"strand": false,
"transcript": "ENST00000410113.5",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 533,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910257.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580316.1",
"strand": false,
"transcript": "ENST00000910257.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 830,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910258.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580317.1",
"strand": false,
"transcript": "ENST00000910258.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 644,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910259.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580318.1",
"strand": false,
"transcript": "ENST00000910259.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2673,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910260.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580319.1",
"strand": false,
"transcript": "ENST00000910260.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": 732,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910261.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580320.1",
"strand": false,
"transcript": "ENST00000910261.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 699,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910262.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580321.1",
"strand": false,
"transcript": "ENST00000910262.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 810,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910263.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580322.1",
"strand": false,
"transcript": "ENST00000910263.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 900,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910264.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580323.1",
"strand": false,
"transcript": "ENST00000910264.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 823,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910265.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580324.1",
"strand": false,
"transcript": "ENST00000910265.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1729,
"cdna_start": 739,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910266.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580325.1",
"strand": false,
"transcript": "ENST00000910266.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 768,
"cds_end": null,
"cds_length": 459,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910267.1",
"gene_hgnc_id": 25816,
"gene_symbol": "EVA1A",
"hgvs_c": "c.386_387delGCinsCA",
"hgvs_p": "p.Arg129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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