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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: 8-95045545-G-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=95045545&ref=G&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 95045545,
"ref": "G",
"alt": "GA",
"effect": "frameshift_variant",
"transcript": "ENST00000396124.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.485dupA",
"hgvs_p": "p.Asn162fs",
"transcript": "NM_152416.4",
"protein_id": "NP_689629.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 333,
"cds_start": 486,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": "ENST00000396124.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.485dupA",
"hgvs_p": "p.Asn162fs",
"transcript": "ENST00000396124.9",
"protein_id": "ENSP00000379430.4",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 333,
"cds_start": 486,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": "NM_152416.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.329dupA",
"hgvs_p": "p.Asn110fs",
"transcript": "NM_001354516.2",
"protein_id": "NP_001341445.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 281,
"cds_start": 330,
"cds_end": null,
"cds_length": 846,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.209dupA",
"hgvs_p": "p.Asn70fs",
"transcript": "NM_001330582.2",
"protein_id": "NP_001317511.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 241,
"cds_start": 210,
"cds_end": null,
"cds_length": 726,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.209dupA",
"hgvs_p": "p.Asn70fs",
"transcript": "NM_001354514.2",
"protein_id": "NP_001341443.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 241,
"cds_start": 210,
"cds_end": null,
"cds_length": 726,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.209dupA",
"hgvs_p": "p.Asn70fs",
"transcript": "NM_001354515.2",
"protein_id": "NP_001341444.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 241,
"cds_start": 210,
"cds_end": null,
"cds_length": 726,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.209dupA",
"hgvs_p": "p.Asn70fs",
"transcript": "ENST00000396111.6",
"protein_id": "ENSP00000379417.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 241,
"cds_start": 210,
"cds_end": null,
"cds_length": 726,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.209dupA",
"hgvs_p": "p.Asn70fs",
"transcript": "ENST00000396113.5",
"protein_id": "ENSP00000379419.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 241,
"cds_start": 210,
"cds_end": null,
"cds_length": 726,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.209dupA",
"hgvs_p": "p.Asn70fs",
"transcript": "ENST00000697364.1",
"protein_id": "ENSP00000513278.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 241,
"cds_start": 210,
"cds_end": null,
"cds_length": 726,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001354517.2",
"protein_id": "NP_001341446.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 222,
"cds_start": 153,
"cds_end": null,
"cds_length": 669,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001354518.2",
"protein_id": "NP_001341447.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 222,
"cds_start": 153,
"cds_end": null,
"cds_length": 669,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.152dupA",
"hgvs_p": "p.Asn51fs",
"transcript": "NM_001354519.2",
"protein_id": "NP_001341448.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 222,
"cds_start": 153,
"cds_end": null,
"cds_length": 669,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.209dupA",
"hgvs_p": "p.Asn70fs",
"transcript": "NM_001354521.2",
"protein_id": "NP_001341450.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 222,
"cds_start": 210,
"cds_end": null,
"cds_length": 669,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.29dupA",
"hgvs_p": "p.Asn10fs",
"transcript": "NM_001354522.2",
"protein_id": "NP_001341451.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 181,
"cds_start": 30,
"cds_end": null,
"cds_length": 546,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.29dupA",
"hgvs_p": "p.Asn10fs",
"transcript": "NM_001354524.2",
"protein_id": "NP_001341453.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 181,
"cds_start": 30,
"cds_end": null,
"cds_length": 546,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.29dupA",
"hgvs_p": "p.Asn10fs",
"transcript": "NM_001354525.2",
"protein_id": "NP_001341454.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 181,
"cds_start": 30,
"cds_end": null,
"cds_length": 546,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.29dupA",
"hgvs_p": "p.Asn10fs",
"transcript": "NM_001354527.2",
"protein_id": "NP_001341456.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 181,
"cds_start": 30,
"cds_end": null,
"cds_length": 546,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.29dupA",
"hgvs_p": "p.Asn10fs",
"transcript": "NM_001354528.2",
"protein_id": "NP_001341457.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 181,
"cds_start": 30,
"cds_end": null,
"cds_length": 546,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.29dupA",
"hgvs_p": "p.Asn10fs",
"transcript": "NM_001354529.2",
"protein_id": "NP_001341458.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 181,
"cds_start": 30,
"cds_end": null,
"cds_length": 546,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.29dupA",
"hgvs_p": "p.Asn10fs",
"transcript": "NM_001354530.2",
"protein_id": "NP_001341459.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 181,
"cds_start": 30,
"cds_end": null,
"cds_length": 546,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.29dupA",
"hgvs_p": "p.Asn10fs",
"transcript": "NM_001354531.2",
"protein_id": "NP_001341460.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 181,
"cds_start": 30,
"cds_end": null,
"cds_length": 546,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.29dupA",
"hgvs_p": "p.Asn10fs",
"transcript": "NM_001354532.2",
"protein_id": "NP_001341461.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 181,
"cds_start": 30,
"cds_end": null,
"cds_length": 546,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.29dupA",
"hgvs_p": "p.Asn10fs",
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},
{
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},
{
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},
{
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"gene_symbol": "NDUFAF6",
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}
],
"gene_symbol": "NDUFAF6",
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"dbsnp": "rs762093523",
"frequency_reference_population": 0.0000013713753,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137138,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.143,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000396124.9",
"gene_symbol": "NDUFAF6",
"hgnc_id": 28625,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.485dupA",
"hgvs_p": "p.Asn162fs"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}