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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: 10-98209811-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98209811&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "R3HCC1L",
"hgnc_id": 23512,
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001256619.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 509268,
"alphamissense_prediction": null,
"alphamissense_score": 0.0735,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00034430623054504395,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3393,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001351015.2",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000298999.8",
"protein_coding": true,
"protein_id": "NP_001337944.2",
"strand": true,
"transcript": "NM_001351015.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3393,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000298999.8",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001351015.2",
"protein_coding": true,
"protein_id": "ENSP00000298999.3",
"strand": true,
"transcript": "ENST00000298999.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 792,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001256619.2",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243548.2",
"strand": true,
"transcript": "NM_001256619.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 792,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000612478.4",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483494.1",
"strand": true,
"transcript": "ENST00000612478.4",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 792,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3444,
"cdna_start": 2023,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903214.1",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573273.1",
"strand": true,
"transcript": "ENST00000903214.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 792,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3377,
"cdna_start": 1956,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903217.1",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573276.1",
"strand": true,
"transcript": "ENST00000903217.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 792,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3180,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000924825.1",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594884.1",
"strand": true,
"transcript": "ENST00000924825.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 792,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3574,
"cdna_start": 2156,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000963063.1",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633122.1",
"strand": true,
"transcript": "ENST00000963063.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 792,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 2096,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000963065.1",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633124.1",
"strand": true,
"transcript": "ENST00000963065.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 792,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3729,
"cdna_start": 2311,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000963066.1",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633125.1",
"strand": true,
"transcript": "ENST00000963066.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3342,
"cdna_start": 1963,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256620.2",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243549.2",
"strand": true,
"transcript": "NM_001256620.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3568,
"cdna_start": 2189,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001351010.2",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337939.2",
"strand": true,
"transcript": "NM_001351010.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3504,
"cdna_start": 2125,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001351011.2",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337940.2",
"strand": true,
"transcript": "NM_001351011.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001351012.2",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337941.2",
"strand": true,
"transcript": "NM_001351012.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 1866,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351013.2",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337942.2",
"strand": true,
"transcript": "NM_001351013.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3490,
"cdna_start": 2111,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001351014.2",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337943.2",
"strand": true,
"transcript": "NM_001351014.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3140,
"cdna_start": 1761,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001351016.2",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337945.2",
"strand": true,
"transcript": "NM_001351016.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 778,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001351017.2",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337946.2",
"strand": true,
"transcript": "NM_001351017.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": 1959,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_014472.5",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055287.5",
"strand": true,
"transcript": "NM_014472.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_138469.3",
"gene_hgnc_id": 23512,
"gene_symbol": "R3HCC1L",
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.His566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_612478.3",
"strand": true,
"transcript": "NM_138469.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "H",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1697,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
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