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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: 19-5692065-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5692065&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 5692065,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004793.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "c.2847C>A",
"hgvs_p": "p.Asp949Glu",
"transcript": "NM_004793.4",
"protein_id": "NP_004784.2",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 959,
"cds_start": 2847,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 2861,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": "ENST00000360614.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004793.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "c.2847C>A",
"hgvs_p": "p.Asp949Glu",
"transcript": "ENST00000360614.8",
"protein_id": "ENSP00000353826.2",
"transcript_support_level": 1,
"aa_start": 949,
"aa_end": null,
"aa_length": 959,
"cds_start": 2847,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 2861,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": "NM_004793.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360614.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "c.2457C>A",
"hgvs_p": "p.Asp819Glu",
"transcript": "ENST00000590729.5",
"protein_id": "ENSP00000465139.1",
"transcript_support_level": 1,
"aa_start": 819,
"aa_end": null,
"aa_length": 829,
"cds_start": 2457,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590729.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "c.3033C>A",
"hgvs_p": "p.Asp1011Glu",
"transcript": "ENST00000958482.1",
"protein_id": "ENSP00000628541.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1021,
"cds_start": 3033,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 3047,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958482.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "c.2994C>A",
"hgvs_p": "p.Asp998Glu",
"transcript": "ENST00000877980.1",
"protein_id": "ENSP00000548039.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2994,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 3008,
"cdna_end": null,
"cdna_length": 3236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877980.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "c.2844C>A",
"hgvs_p": "p.Asp948Glu",
"transcript": "ENST00000913306.1",
"protein_id": "ENSP00000583365.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 958,
"cds_start": 2844,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2858,
"cdna_end": null,
"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913306.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "c.2655C>A",
"hgvs_p": "p.Asp885Glu",
"transcript": "NM_001276479.2",
"protein_id": "NP_001263408.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 895,
"cds_start": 2655,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2669,
"cdna_end": null,
"cdna_length": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276479.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "c.2655C>A",
"hgvs_p": "p.Asp885Glu",
"transcript": "ENST00000593119.5",
"protein_id": "ENSP00000468541.1",
"transcript_support_level": 2,
"aa_start": 885,
"aa_end": null,
"aa_length": 895,
"cds_start": 2655,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2688,
"cdna_end": null,
"cdna_length": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593119.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "c.2607C>A",
"hgvs_p": "p.Asp869Glu",
"transcript": "ENST00000877979.1",
"protein_id": "ENSP00000548038.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 879,
"cds_start": 2607,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2621,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877979.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "c.2505C>A",
"hgvs_p": "p.Asp835Glu",
"transcript": "ENST00000585374.5",
"protein_id": "ENSP00000465585.1",
"transcript_support_level": 5,
"aa_start": 835,
"aa_end": null,
"aa_length": 845,
"cds_start": 2505,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585374.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "c.2259C>A",
"hgvs_p": "p.Asp753Glu",
"transcript": "NM_001276480.1",
"protein_id": "NP_001263409.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 763,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 2883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276480.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "c.2259C>A",
"hgvs_p": "p.Asp753Glu",
"transcript": "ENST00000540670.6",
"protein_id": "ENSP00000441523.1",
"transcript_support_level": 2,
"aa_start": 753,
"aa_end": null,
"aa_length": 763,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2772,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540670.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "c.721C>A",
"hgvs_p": "p.Arg241Arg",
"transcript": "ENST00000589473.1",
"protein_id": "ENSP00000468379.1",
"transcript_support_level": 3,
"aa_start": 241,
"aa_end": null,
"aa_length": 263,
"cds_start": 721,
"cds_end": null,
"cds_length": 793,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589473.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "n.2585C>A",
"hgvs_p": null,
"transcript": "ENST00000587552.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000587552.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "n.*2096C>A",
"hgvs_p": null,
"transcript": "ENST00000590558.5",
"protein_id": "ENSP00000467808.1",
"transcript_support_level": 5,
"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": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590558.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "n.2652C>A",
"hgvs_p": null,
"transcript": "NR_076392.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2883,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_076392.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LONP1",
"gene_hgnc_id": 9479,
"hgvs_c": "n.*2096C>A",
"hgvs_p": null,
"transcript": "ENST00000590558.5",
"protein_id": "ENSP00000467808.1",
"transcript_support_level": 5,
"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": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590558.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL36",
"gene_hgnc_id": 13631,
"hgvs_c": "c.*444G>T",
"hgvs_p": null,
"transcript": "NM_033643.3",
"protein_id": "NP_378669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 607,
"mane_select": "ENST00000347512.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033643.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL36",
"gene_hgnc_id": 13631,
"hgvs_c": "c.*444G>T",
"hgvs_p": null,
"transcript": "ENST00000347512.8",
"protein_id": "ENSP00000252543.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 607,
"mane_select": "NM_033643.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347512.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL36",
"gene_hgnc_id": 13631,
"hgvs_c": "c.*444G>T",
"hgvs_p": null,
"transcript": "NM_015414.4",
"protein_id": "NP_056229.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015414.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL36",
"gene_hgnc_id": 13631,
"hgvs_c": "c.*444G>T",
"hgvs_p": null,
"transcript": "ENST00000913550.1",
"protein_id": "ENSP00000583609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913550.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL36",
"gene_hgnc_id": 13631,
"hgvs_c": "c.*444G>T",
"hgvs_p": null,
"transcript": "ENST00000913553.1",
"protein_id": "ENSP00000583612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 705,
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{
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],
"gene_symbol": "LONP1",
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"dbsnp": "rs200774149",
"frequency_reference_population": 0.00002985405,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.000020565,
"gnomad_genomes_af": 0.000120776,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016170233488082886,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0541,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.536,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_004793.4",
"gene_symbol": "LONP1",
"hgnc_id": 9479,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,XL",
"hgvs_c": "c.2847C>A",
"hgvs_p": "p.Asp949Glu"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015414.4",
"gene_symbol": "RPL36",
"hgnc_id": 13631,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*444G>T",
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}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}