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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: 10-13611673-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=13611673&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 13611673,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001395875.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"transcript": "NM_003675.4",
"protein_id": "NP_003666.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 342,
"cds_start": 569,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378572.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003675.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"transcript": "ENST00000378572.8",
"protein_id": "ENSP00000367835.3",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 342,
"cds_start": 569,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003675.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378572.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"transcript": "ENST00000937338.1",
"protein_id": "ENSP00000607397.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 367,
"cds_start": 569,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937338.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Lys199Arg",
"transcript": "NM_001395875.1",
"protein_id": "NP_001382804.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 351,
"cds_start": 596,
"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": "NM_001395875.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Lys199Arg",
"transcript": "ENST00000855616.1",
"protein_id": "ENSP00000525675.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 351,
"cds_start": 596,
"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": "ENST00000855616.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Lys189Arg",
"transcript": "ENST00000937337.1",
"protein_id": "ENSP00000607396.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 341,
"cds_start": 566,
"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": "ENST00000937337.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Lys188Arg",
"transcript": "ENST00000937340.1",
"protein_id": "ENSP00000607399.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 340,
"cds_start": 563,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937340.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.551A>G",
"hgvs_p": "p.Lys184Arg",
"transcript": "NM_001395876.1",
"protein_id": "NP_001382805.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 336,
"cds_start": 551,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395876.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Lys199Arg",
"transcript": "ENST00000966918.1",
"protein_id": "ENSP00000636977.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 332,
"cds_start": 596,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966918.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"transcript": "NM_001395877.1",
"protein_id": "NP_001382806.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 329,
"cds_start": 569,
"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": "NM_001395877.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.524A>G",
"hgvs_p": "p.Lys175Arg",
"transcript": "NM_001395878.1",
"protein_id": "NP_001382807.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 327,
"cds_start": 524,
"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": "NM_001395878.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"transcript": "ENST00000966920.1",
"protein_id": "ENSP00000636979.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 323,
"cds_start": 569,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966920.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"transcript": "ENST00000937342.1",
"protein_id": "ENSP00000607401.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 320,
"cds_start": 569,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937342.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"transcript": "NM_001395879.1",
"protein_id": "NP_001382808.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 318,
"cds_start": 569,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395879.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"transcript": "ENST00000966919.1",
"protein_id": "ENSP00000636978.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 318,
"cds_start": 569,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966919.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Lys199Arg",
"transcript": "NM_001395880.1",
"protein_id": "NP_001382809.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 304,
"cds_start": 596,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395880.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.455A>G",
"hgvs_p": "p.Lys152Arg",
"transcript": "ENST00000937341.1",
"protein_id": "ENSP00000607400.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 304,
"cds_start": 455,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937341.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Lys199Arg",
"transcript": "ENST00000966917.1",
"protein_id": "ENSP00000636976.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 304,
"cds_start": 596,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966917.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"transcript": "NM_001395881.1",
"protein_id": "NP_001382810.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 295,
"cds_start": 569,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395881.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"transcript": "ENST00000855615.1",
"protein_id": "ENSP00000525674.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 295,
"cds_start": 569,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855615.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Lys137Arg",
"transcript": "NM_001395882.1",
"protein_id": "NP_001382811.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 289,
"cds_start": 410,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395882.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF18",
"gene_hgnc_id": 17351,
"hgvs_c": "c.551A>G",
"hgvs_p": "p.Lys184Arg",
"transcript": "NM_001395883.1",
"protein_id": "NP_001382812.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 289,
"cds_start": 551,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395883.1"
},
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{
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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,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.3556351661682129,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.51,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001395875.1",
"gene_symbol": "PRPF18",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.596A>G",
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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
}