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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: 11-64361883-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64361883&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64361883,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003942.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "NM_003942.3",
"protein_id": "NP_003933.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 772,
"cds_start": 787,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334205.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003942.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "ENST00000334205.9",
"protein_id": "ENSP00000333896.4",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 772,
"cds_start": 787,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003942.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334205.9"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "ENST00000528057.5",
"protein_id": "ENSP00000435580.1",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 765,
"cds_start": 787,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528057.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.946C>A",
"hgvs_p": "p.Pro316Thr",
"transcript": "ENST00000969972.1",
"protein_id": "ENSP00000640031.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 825,
"cds_start": 946,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969972.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Pro269Thr",
"transcript": "ENST00000891467.1",
"protein_id": "ENSP00000561526.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 778,
"cds_start": 805,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891467.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "ENST00000969971.1",
"protein_id": "ENSP00000640030.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 767,
"cds_start": 787,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969971.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "NM_001006944.2",
"protein_id": "NP_001006945.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 766,
"cds_start": 787,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006944.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "NM_001300802.2",
"protein_id": "NP_001287731.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 765,
"cds_start": 787,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300802.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "ENST00000891459.1",
"protein_id": "ENSP00000561518.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 765,
"cds_start": 787,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891459.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "ENST00000891468.1",
"protein_id": "ENSP00000561527.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 761,
"cds_start": 787,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891468.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "ENST00000891460.1",
"protein_id": "ENSP00000561519.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 760,
"cds_start": 787,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891460.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "ENST00000891462.1",
"protein_id": "ENSP00000561521.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 759,
"cds_start": 787,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891462.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "ENST00000891461.1",
"protein_id": "ENSP00000561520.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 758,
"cds_start": 787,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891461.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Pro239Thr",
"transcript": "ENST00000891465.1",
"protein_id": "ENSP00000561524.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 748,
"cds_start": 715,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891465.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Pro239Thr",
"transcript": "ENST00000969973.1",
"protein_id": "ENSP00000640032.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 741,
"cds_start": 715,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969973.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "ENST00000891458.1",
"protein_id": "ENSP00000561517.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 717,
"cds_start": 787,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891458.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "ENST00000891464.1",
"protein_id": "ENSP00000561523.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 711,
"cds_start": 787,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891464.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "ENST00000891463.1",
"protein_id": "ENSP00000561522.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 710,
"cds_start": 787,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891463.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Pro263Thr",
"transcript": "ENST00000891466.1",
"protein_id": "ENSP00000561525.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 710,
"cds_start": 787,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891466.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.598C>A",
"hgvs_p": "p.Pro200Thr",
"transcript": "NM_001318361.2",
"protein_id": "NP_001305290.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 709,
"cds_start": 598,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318361.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.739C>A",
"hgvs_p": "p.Pro247Thr",
"transcript": "ENST00000530504.1",
"protein_id": "ENSP00000432945.1",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 703,
"cds_start": 739,
"cds_end": null,
"cds_length": 2114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530504.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Pro190Thr",
"transcript": "ENST00000969974.1",
"protein_id": "ENSP00000640033.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 699,
"cds_start": 568,
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{
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{
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{
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{
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{
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{
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],
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],
"gene_symbol": "RPS6KA4",
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"dbsnp": "rs772788703",
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"hom_count_reference_population": 0,
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"gnomad_genomes_ac": 4,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0742989182472229,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.044,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003942.3",
"gene_symbol": "RPS6KA4",
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"effects": [
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],
"inheritance_mode": "AD",
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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
}