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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: 14-58408574-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=58408574&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 58408574,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_207377.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOMM20L",
"gene_hgnc_id": 33752,
"hgvs_c": "c.451C>A",
"hgvs_p": "p.Pro151Thr",
"transcript": "NM_207377.3",
"protein_id": "NP_997260.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 152,
"cds_start": 451,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360945.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207377.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOMM20L",
"gene_hgnc_id": 33752,
"hgvs_c": "c.451C>A",
"hgvs_p": "p.Pro151Thr",
"transcript": "ENST00000360945.7",
"protein_id": "ENSP00000354204.2",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 152,
"cds_start": 451,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207377.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360945.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "NM_012460.4",
"protein_id": "NP_036592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395159.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012460.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"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": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "ENST00000395159.7",
"protein_id": "ENSP00000378588.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012460.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395159.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOMM20L",
"gene_hgnc_id": 33752,
"hgvs_c": "n.*144C>A",
"hgvs_p": null,
"transcript": "ENST00000557754.1",
"protein_id": "ENSP00000451683.1",
"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": "ENST00000557754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOMM20L",
"gene_hgnc_id": 33752,
"hgvs_c": "n.*144C>A",
"hgvs_p": null,
"transcript": "ENST00000557754.1",
"protein_id": "ENSP00000451683.1",
"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": "ENST00000557754.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOMM20L",
"gene_hgnc_id": 33752,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Pro159Thr",
"transcript": "XM_011536742.4",
"protein_id": "XP_011535044.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 160,
"cds_start": 475,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536742.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOMM20L",
"gene_hgnc_id": 33752,
"hgvs_c": "c.325C>A",
"hgvs_p": "p.Pro109Thr",
"transcript": "XM_011536744.4",
"protein_id": "XP_011535046.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 110,
"cds_start": 325,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536744.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "NM_001304485.2",
"protein_id": "NP_001291414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304485.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "NM_001304486.1",
"protein_id": "NP_001291415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304486.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "NM_001304487.2",
"protein_id": "NP_001291416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304487.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "ENST00000871600.1",
"protein_id": "ENSP00000541659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871600.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "ENST00000922998.1",
"protein_id": "ENSP00000593057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922998.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "ENST00000922994.1",
"protein_id": "ENSP00000593053.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922994.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "NM_001304488.1",
"protein_id": "NP_001291417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304488.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "ENST00000922999.1",
"protein_id": "ENSP00000593058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922999.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "NM_001304489.1",
"protein_id": "NP_001291418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": null,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304489.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "ENST00000922997.1",
"protein_id": "ENSP00000593056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": null,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922997.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "NM_001304490.1",
"protein_id": "NP_001291419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 60,
"cds_start": null,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304490.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "NM_001304491.1",
"protein_id": "NP_001291420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 60,
"cds_start": null,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304491.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "ENST00000871598.1",
"protein_id": "ENSP00000541657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": null,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871598.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM9",
"gene_hgnc_id": 11819,
"hgvs_c": "c.*460G>T",
"hgvs_p": null,
"transcript": "XM_047431264.1",
"protein_id": "XP_047287220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431264.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
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{
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{
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{
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"biotype": "pseudogene",
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{
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"biotype": "pseudogene",
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],
"gene_symbol": "TOMM20L",
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"dbsnp": "rs767446077",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05557069182395935,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20999999344348907,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.068,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.315,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.21,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_207377.3",
"gene_symbol": "TOMM20L",
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"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.451C>A",
"hgvs_p": "p.Pro151Thr"
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{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012460.4",
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"effects": [
"3_prime_UTR_variant"
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"inheritance_mode": "AR",
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},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000556734.1",
"gene_symbol": "ENSG00000258378",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.374+9644C>A",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}