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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: 15-41387557-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41387557&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41387557,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016013.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "NM_016013.4",
"protein_id": "NP_057097.2",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260361.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016013.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "ENST00000260361.9",
"protein_id": "ENSP00000260361.4",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016013.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260361.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "n.*339G>T",
"hgvs_p": null,
"transcript": "ENST00000559127.5",
"protein_id": "ENSP00000453027.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559127.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "n.*339G>T",
"hgvs_p": null,
"transcript": "ENST00000559127.5",
"protein_id": "ENSP00000453027.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559127.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.955G>T",
"hgvs_p": "p.Asp319Tyr",
"transcript": "ENST00000853315.1",
"protein_id": "ENSP00000523374.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 355,
"cds_start": 955,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853315.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "NM_001437486.1",
"protein_id": "NP_001424415.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437486.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "NM_001437487.1",
"protein_id": "NP_001424416.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437487.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "ENST00000560978.2",
"protein_id": "ENSP00000453944.2",
"transcript_support_level": 3,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560978.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "ENST00000853302.1",
"protein_id": "ENSP00000523361.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853302.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "ENST00000853303.1",
"protein_id": "ENSP00000523362.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853303.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "ENST00000853304.1",
"protein_id": "ENSP00000523363.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853304.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "ENST00000853306.1",
"protein_id": "ENSP00000523365.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853306.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "ENST00000853309.1",
"protein_id": "ENSP00000523368.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853309.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "ENST00000853310.1",
"protein_id": "ENSP00000523369.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853310.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "ENST00000853312.1",
"protein_id": "ENSP00000523371.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853312.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "ENST00000853313.1",
"protein_id": "ENSP00000523372.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853313.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "ENST00000928271.1",
"protein_id": "ENSP00000598330.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928271.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Asp291Tyr",
"transcript": "ENST00000928272.1",
"protein_id": "ENSP00000598331.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 327,
"cds_start": 871,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928272.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Asp289Tyr",
"transcript": "ENST00000949842.1",
"protein_id": "ENSP00000619901.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 325,
"cds_start": 865,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949842.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.796G>T",
"hgvs_p": "p.Asp266Tyr",
"transcript": "ENST00000853305.1",
"protein_id": "ENSP00000523364.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 302,
"cds_start": 796,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853305.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.796G>T",
"hgvs_p": "p.Asp266Tyr",
"transcript": "ENST00000853308.1",
"protein_id": "ENSP00000523367.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 302,
"cds_start": 796,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853308.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFAF1",
"gene_hgnc_id": 18828,
"hgvs_c": "c.796G>T",
"hgvs_p": "p.Asp266Tyr",
"transcript": "ENST00000928273.1",
"protein_id": "ENSP00000598332.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 302,
"cds_start": 796,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}