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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: 6-29725284-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=29725284&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 29725284,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001098479.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "NM_001098479.2",
"protein_id": "NP_001091949.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 442,
"cds_start": 864,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259951.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098479.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "ENST00000259951.12",
"protein_id": "ENSP00000259951.6",
"transcript_support_level": 6,
"aa_start": 288,
"aa_end": null,
"aa_length": 442,
"cds_start": 864,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098479.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259951.12"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "ENST00000957138.1",
"protein_id": "ENSP00000627197.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 442,
"cds_start": 864,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957138.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "ENST00000899563.1",
"protein_id": "ENSP00000569622.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 431,
"cds_start": 864,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899563.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "NM_018950.3",
"protein_id": "NP_061823.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 346,
"cds_start": 864,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018950.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "ENST00000334668.8",
"protein_id": "ENSP00000334263.4",
"transcript_support_level": 6,
"aa_start": 288,
"aa_end": null,
"aa_length": 346,
"cds_start": 864,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334668.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "ENST00000376861.5",
"protein_id": "ENSP00000366057.1",
"transcript_support_level": 6,
"aa_start": 288,
"aa_end": null,
"aa_length": 346,
"cds_start": 864,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376861.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.231C>G",
"hgvs_p": "p.Pro77Pro",
"transcript": "ENST00000465459.2",
"protein_id": "ENSP00000486947.1",
"transcript_support_level": 6,
"aa_start": 77,
"aa_end": null,
"aa_length": 143,
"cds_start": 231,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465459.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "XM_047418718.1",
"protein_id": "XP_047274674.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 864,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418718.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "XM_017010810.1",
"protein_id": "XP_016866299.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 435,
"cds_start": 864,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010810.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "XM_047418719.1",
"protein_id": "XP_047274675.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 434,
"cds_start": 864,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418719.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "XM_017010812.2",
"protein_id": "XP_016866301.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 420,
"cds_start": 864,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010812.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "XM_017010813.2",
"protein_id": "XP_016866302.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 388,
"cds_start": 864,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010813.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "XM_011514564.2",
"protein_id": "XP_011512866.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 343,
"cds_start": 864,
"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": "XM_011514564.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"transcript": "XM_047418720.1",
"protein_id": "XP_047274676.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 343,
"cds_start": 864,
"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": "XM_047418720.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.510C>G",
"hgvs_p": "p.Pro170Pro",
"transcript": "XM_047418721.1",
"protein_id": "XP_047274677.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 327,
"cds_start": 510,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418721.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.611-163C>G",
"hgvs_p": null,
"transcript": "NM_001098478.2",
"protein_id": "NP_001091948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098478.2"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "c.611-163C>G",
"hgvs_p": null,
"transcript": "ENST00000434407.6",
"protein_id": "ENSP00000397376.2",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434407.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "n.500C>G",
"hgvs_p": null,
"transcript": "ENST00000429294.3",
"protein_id": null,
"transcript_support_level": 6,
"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": "pseudogene",
"feature": "ENST00000429294.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "n.546C>G",
"hgvs_p": null,
"transcript": "ENST00000484704.5",
"protein_id": null,
"transcript_support_level": 6,
"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": "pseudogene",
"feature": "ENST00000484704.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "n.763C>G",
"hgvs_p": null,
"transcript": "ENST00000485513.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "pseudogene",
"feature": "ENST00000485513.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-F",
"gene_hgnc_id": 4963,
"hgvs_c": "n.193C>G",
"hgvs_p": null,
"transcript": "ENST00000489502.5",
"protein_id": null,
"transcript_support_level": 6,
"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": "pseudogene",
"feature": "ENST00000489502.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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{
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{
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],
"gene_symbol": "HLA-F",
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"dbsnp": "rs1405929879",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02500000037252903,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.516,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001098479.2",
"gene_symbol": "HLA-F",
"hgnc_id": 4963,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000849927.1",
"gene_symbol": "HLA-F-AS1",
"hgnc_id": 26645,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.192-4136G>C",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}