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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: 14-36314539-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=36314539&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 36314539,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016586.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Phe182Leu",
"transcript": "NM_016586.3",
"protein_id": "NP_057670.2",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 344,
"cds_start": 544,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000416007.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016586.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Phe182Leu",
"transcript": "ENST00000416007.9",
"protein_id": "ENSP00000399718.2",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 344,
"cds_start": 544,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016586.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416007.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Phe182Leu",
"transcript": "ENST00000318473.11",
"protein_id": "ENSP00000324444.5",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 343,
"cds_start": 544,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318473.11"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Phe182Leu",
"transcript": "ENST00000359527.11",
"protein_id": "ENSP00000352517.5",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 282,
"cds_start": 544,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359527.11"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.580T>C",
"hgvs_p": "p.Phe194Leu",
"transcript": "ENST00000917538.1",
"protein_id": "ENSP00000587597.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 356,
"cds_start": 580,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917538.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.580T>C",
"hgvs_p": "p.Phe194Leu",
"transcript": "ENST00000917537.1",
"protein_id": "ENSP00000587596.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 355,
"cds_start": 580,
"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": "ENST00000917537.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Phe182Leu",
"transcript": "ENST00000917541.1",
"protein_id": "ENSP00000587600.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 355,
"cds_start": 544,
"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": "ENST00000917541.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.568T>C",
"hgvs_p": "p.Phe190Leu",
"transcript": "ENST00000917539.1",
"protein_id": "ENSP00000587598.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 352,
"cds_start": 568,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917539.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Phe182Leu",
"transcript": "ENST00000905197.1",
"protein_id": "ENSP00000575256.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 351,
"cds_start": 544,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905197.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Phe182Leu",
"transcript": "NM_001144891.2",
"protein_id": "NP_001138363.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 343,
"cds_start": 544,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144891.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Phe182Leu",
"transcript": "ENST00000950008.1",
"protein_id": "ENSP00000620067.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 343,
"cds_start": 544,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950008.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Phe182Leu",
"transcript": "ENST00000905201.1",
"protein_id": "ENSP00000575260.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 341,
"cds_start": 544,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905201.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.535T>C",
"hgvs_p": "p.Phe179Leu",
"transcript": "ENST00000950007.1",
"protein_id": "ENSP00000620066.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 341,
"cds_start": 535,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950007.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Phe167Leu",
"transcript": "ENST00000905199.1",
"protein_id": "ENSP00000575258.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 329,
"cds_start": 499,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905199.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.565T>C",
"hgvs_p": "p.Phe189Leu",
"transcript": "ENST00000905202.1",
"protein_id": "ENSP00000575261.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 329,
"cds_start": 565,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905202.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.565T>C",
"hgvs_p": "p.Phe189Leu",
"transcript": "ENST00000905200.1",
"protein_id": "ENSP00000575259.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 328,
"cds_start": 565,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905200.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Phe167Leu",
"transcript": "ENST00000917540.1",
"protein_id": "ENSP00000587599.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 328,
"cds_start": 499,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917540.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Phe182Leu",
"transcript": "ENST00000905196.1",
"protein_id": "ENSP00000575255.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 322,
"cds_start": 544,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905196.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Phe182Leu",
"transcript": "ENST00000905198.1",
"protein_id": "ENSP00000575257.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 321,
"cds_start": 544,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905198.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Phe167Leu",
"transcript": "ENST00000950009.1",
"protein_id": "ENSP00000620068.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 307,
"cds_start": 499,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950009.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.532T>C",
"hgvs_p": "p.Phe178Leu",
"transcript": "ENST00000605579.5",
"protein_id": "ENSP00000473739.1",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 298,
"cds_start": 532,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605579.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Phe182Leu",
"transcript": "NM_001308110.2",
"protein_id": "NP_001295039.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 282,
"cds_start": 544,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308110.2"
},
{
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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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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9182524085044861,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.674,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016586.3",
"gene_symbol": "MBIP",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}