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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: 8-95052177-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=95052177&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 95052177,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000396124.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "NM_152416.4",
"protein_id": "NP_689629.2",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 333,
"cds_start": 820,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": "ENST00000396124.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "ENST00000396124.9",
"protein_id": "ENSP00000379430.4",
"transcript_support_level": 2,
"aa_start": 274,
"aa_end": null,
"aa_length": 333,
"cds_start": 820,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": "NM_152416.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.664A>G",
"hgvs_p": "p.Arg222Gly",
"transcript": "NM_001354516.2",
"protein_id": "NP_001341445.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 281,
"cds_start": 664,
"cds_end": null,
"cds_length": 846,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Arg182Gly",
"transcript": "NM_001330582.2",
"protein_id": "NP_001317511.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 241,
"cds_start": 544,
"cds_end": null,
"cds_length": 726,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Arg182Gly",
"transcript": "NM_001354514.2",
"protein_id": "NP_001341443.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 241,
"cds_start": 544,
"cds_end": null,
"cds_length": 726,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Arg182Gly",
"transcript": "NM_001354515.2",
"protein_id": "NP_001341444.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 241,
"cds_start": 544,
"cds_end": null,
"cds_length": 726,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Arg182Gly",
"transcript": "ENST00000396111.6",
"protein_id": "ENSP00000379417.1",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 241,
"cds_start": 544,
"cds_end": null,
"cds_length": 726,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Arg182Gly",
"transcript": "ENST00000396113.5",
"protein_id": "ENSP00000379419.1",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 241,
"cds_start": 544,
"cds_end": null,
"cds_length": 726,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Arg182Gly",
"transcript": "ENST00000697364.1",
"protein_id": "ENSP00000513278.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 241,
"cds_start": 544,
"cds_end": null,
"cds_length": 726,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "NM_001354517.2",
"protein_id": "NP_001341446.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 222,
"cds_start": 487,
"cds_end": null,
"cds_length": 669,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "NM_001354518.2",
"protein_id": "NP_001341447.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 222,
"cds_start": 487,
"cds_end": null,
"cds_length": 669,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Arg163Gly",
"transcript": "NM_001354519.2",
"protein_id": "NP_001341448.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 222,
"cds_start": 487,
"cds_end": null,
"cds_length": 669,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Arg122Gly",
"transcript": "NM_001354522.2",
"protein_id": "NP_001341451.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Arg122Gly",
"transcript": "NM_001354524.2",
"protein_id": "NP_001341453.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Arg122Gly",
"transcript": "NM_001354525.2",
"protein_id": "NP_001341454.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Arg122Gly",
"transcript": "NM_001354527.2",
"protein_id": "NP_001341456.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Arg122Gly",
"transcript": "NM_001354528.2",
"protein_id": "NP_001341457.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Arg122Gly",
"transcript": "NM_001354529.2",
"protein_id": "NP_001341458.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Arg122Gly",
"transcript": "NM_001354530.2",
"protein_id": "NP_001341459.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Arg122Gly",
"transcript": "NM_001354531.2",
"protein_id": "NP_001341460.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Arg122Gly",
"transcript": "NM_001354532.2",
"protein_id": "NP_001341461.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "c.364A>G",
"hgvs_p": "p.Arg122Gly",
"transcript": "NM_001354533.2",
"protein_id": "NP_001341462.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 181,
"cds_start": 364,
"cds_end": null,
"cds_length": 546,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 1988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF6",
"gene_hgnc_id": 28625,
"hgvs_c": "n.*518A>G",
"hgvs_p": null,
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}