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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: 11-36633290-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=36633290&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 36633290,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_138787.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "NM_138787.4",
"protein_id": "NP_620142.2",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 866,
"mane_select": "ENST00000334307.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138787.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000334307.10",
"protein_id": "ENSP00000334848.5",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 866,
"mane_select": "NM_138787.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334307.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.137-14726A>C",
"hgvs_p": null,
"transcript": "ENST00000347206.8",
"protein_id": "ENSP00000299442.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347206.8"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "NM_001276722.2",
"protein_id": "NP_001263651.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276722.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "NM_001276723.2",
"protein_id": "NP_001263652.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276723.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "NM_001276724.2",
"protein_id": "NP_001263653.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276724.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000446510.6",
"protein_id": "ENSP00000403937.3",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446510.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000530697.6",
"protein_id": "ENSP00000432685.2",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530697.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000531554.6",
"protein_id": "ENSP00000433407.2",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531554.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000532470.3",
"protein_id": "ENSP00000431374.2",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532470.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000617650.5",
"protein_id": "ENSP00000483671.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617650.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000676979.1",
"protein_id": "ENSP00000503448.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 1005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676979.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000678060.1",
"protein_id": "ENSP00000504720.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678060.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000864503.1",
"protein_id": "ENSP00000534562.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864503.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000967886.1",
"protein_id": "ENSP00000637945.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967886.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000967887.1",
"protein_id": "ENSP00000637946.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967887.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000967888.1",
"protein_id": "ENSP00000637947.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967888.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000967889.1",
"protein_id": "ENSP00000637948.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967889.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000967891.1",
"protein_id": "ENSP00000637950.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967891.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000967892.1",
"protein_id": "ENSP00000637951.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967892.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000967893.1",
"protein_id": "ENSP00000637952.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 221,
"cds_start": 143,
"cds_end": null,
"cds_length": 666,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967893.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFTAP",
"gene_hgnc_id": 25142,
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro",
"transcript": "ENST00000678950.1",
"protein_id": "ENSP00000503124.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 196,
"cds_start": 143,
"cds_end": null,
"cds_length": 591,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 3608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678950.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
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{
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],
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{
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"protein_coding": false,
"strand": true,
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"upstream_gene_variant"
],
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],
"gene_symbol": "IFTAP",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04559162259101868,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.205,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_138787.4",
"gene_symbol": "IFTAP",
"hgnc_id": 25142,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.143A>C",
"hgvs_p": "p.His48Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}