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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: 8-95048480-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=95048480&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 95048480,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000396124.9",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.738T>C",
"hgvs_p": "p.Phe246Phe",
"transcript": "NM_152416.4",
"protein_id": "NP_689629.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 333,
"cds_start": 738,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": "ENST00000396124.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.738T>C",
"hgvs_p": "p.Phe246Phe",
"transcript": "ENST00000396124.9",
"protein_id": "ENSP00000379430.4",
"transcript_support_level": 2,
"aa_start": 246,
"aa_end": null,
"aa_length": 333,
"cds_start": 738,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": "NM_152416.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.582T>C",
"hgvs_p": "p.Phe194Phe",
"transcript": "NM_001354516.2",
"protein_id": "NP_001341445.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 281,
"cds_start": 582,
"cds_end": null,
"cds_length": 846,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.462T>C",
"hgvs_p": "p.Phe154Phe",
"transcript": "NM_001330582.2",
"protein_id": "NP_001317511.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 241,
"cds_start": 462,
"cds_end": null,
"cds_length": 726,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.462T>C",
"hgvs_p": "p.Phe154Phe",
"transcript": "NM_001354514.2",
"protein_id": "NP_001341443.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 241,
"cds_start": 462,
"cds_end": null,
"cds_length": 726,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.462T>C",
"hgvs_p": "p.Phe154Phe",
"transcript": "NM_001354515.2",
"protein_id": "NP_001341444.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 241,
"cds_start": 462,
"cds_end": null,
"cds_length": 726,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.462T>C",
"hgvs_p": "p.Phe154Phe",
"transcript": "ENST00000396111.6",
"protein_id": "ENSP00000379417.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 241,
"cds_start": 462,
"cds_end": null,
"cds_length": 726,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.462T>C",
"hgvs_p": "p.Phe154Phe",
"transcript": "ENST00000396113.5",
"protein_id": "ENSP00000379419.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 241,
"cds_start": 462,
"cds_end": null,
"cds_length": 726,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.462T>C",
"hgvs_p": "p.Phe154Phe",
"transcript": "ENST00000697364.1",
"protein_id": "ENSP00000513278.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 241,
"cds_start": 462,
"cds_end": null,
"cds_length": 726,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.405T>C",
"hgvs_p": "p.Phe135Phe",
"transcript": "NM_001354517.2",
"protein_id": "NP_001341446.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 222,
"cds_start": 405,
"cds_end": null,
"cds_length": 669,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.405T>C",
"hgvs_p": "p.Phe135Phe",
"transcript": "NM_001354518.2",
"protein_id": "NP_001341447.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 222,
"cds_start": 405,
"cds_end": null,
"cds_length": 669,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.405T>C",
"hgvs_p": "p.Phe135Phe",
"transcript": "NM_001354519.2",
"protein_id": "NP_001341448.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 222,
"cds_start": 405,
"cds_end": null,
"cds_length": 669,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.462T>C",
"hgvs_p": "p.Phe154Phe",
"transcript": "NM_001354521.2",
"protein_id": "NP_001341450.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 222,
"cds_start": 462,
"cds_end": null,
"cds_length": 669,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.282T>C",
"hgvs_p": "p.Phe94Phe",
"transcript": "NM_001354522.2",
"protein_id": "NP_001341451.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 181,
"cds_start": 282,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.282T>C",
"hgvs_p": "p.Phe94Phe",
"transcript": "NM_001354524.2",
"protein_id": "NP_001341453.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 181,
"cds_start": 282,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.282T>C",
"hgvs_p": "p.Phe94Phe",
"transcript": "NM_001354525.2",
"protein_id": "NP_001341454.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 181,
"cds_start": 282,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.282T>C",
"hgvs_p": "p.Phe94Phe",
"transcript": "NM_001354527.2",
"protein_id": "NP_001341456.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 181,
"cds_start": 282,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.282T>C",
"hgvs_p": "p.Phe94Phe",
"transcript": "NM_001354528.2",
"protein_id": "NP_001341457.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 181,
"cds_start": 282,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.282T>C",
"hgvs_p": "p.Phe94Phe",
"transcript": "NM_001354529.2",
"protein_id": "NP_001341458.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 181,
"cds_start": 282,
"cds_end": null,
"cds_length": 546,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.282T>C",
"hgvs_p": "p.Phe94Phe",
"transcript": "NM_001354530.2",
"protein_id": "NP_001341459.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 181,
"cds_start": 282,
"cds_end": null,
"cds_length": 546,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.282T>C",
"hgvs_p": "p.Phe94Phe",
"transcript": "NM_001354531.2",
"protein_id": "NP_001341460.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 181,
"cds_start": 282,
"cds_end": null,
"cds_length": 546,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.282T>C",
"hgvs_p": "p.Phe94Phe",
"transcript": "NM_001354532.2",
"protein_id": "NP_001341461.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 181,
"cds_start": 282,
"cds_end": null,
"cds_length": 546,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "not specified|not provided|NDUFAF6-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}