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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: 10-92052307-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=92052307&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 92052307,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014912.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2002G>T",
"hgvs_p": "p.Ala668Ser",
"transcript": "NM_014912.5",
"protein_id": "NP_055727.3",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 698,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265997.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014912.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2002G>T",
"hgvs_p": "p.Ala668Ser",
"transcript": "ENST00000265997.5",
"protein_id": "ENSP00000265997.4",
"transcript_support_level": 1,
"aa_start": 668,
"aa_end": null,
"aa_length": 698,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014912.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265997.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1960G>T",
"hgvs_p": "p.Ala654Ser",
"transcript": "ENST00000412050.8",
"protein_id": "ENSP00000398310.2",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 684,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412050.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Ala685Ser",
"transcript": "ENST00000903868.1",
"protein_id": "ENSP00000573927.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 715,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903868.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Ala685Ser",
"transcript": "ENST00000903872.1",
"protein_id": "ENSP00000573931.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 715,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903872.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Ala685Ser",
"transcript": "ENST00000903879.1",
"protein_id": "ENSP00000573938.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 715,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903879.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000903866.1",
"protein_id": "ENSP00000573925.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 707,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903866.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000903870.1",
"protein_id": "ENSP00000573929.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 707,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903870.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000903875.1",
"protein_id": "ENSP00000573934.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 707,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903875.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000903878.1",
"protein_id": "ENSP00000573937.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 707,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903878.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000903880.1",
"protein_id": "ENSP00000573939.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 707,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903880.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000946417.1",
"protein_id": "ENSP00000616476.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 707,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946417.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000946418.1",
"protein_id": "ENSP00000616477.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 707,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946418.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000946420.1",
"protein_id": "ENSP00000616479.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 707,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946420.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.2002G>T",
"hgvs_p": "p.Ala668Ser",
"transcript": "ENST00000614585.4",
"protein_id": "ENSP00000482128.1",
"transcript_support_level": 5,
"aa_start": 668,
"aa_end": null,
"aa_length": 698,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614585.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1984G>T",
"hgvs_p": "p.Ala662Ser",
"transcript": "ENST00000903882.1",
"protein_id": "ENSP00000573941.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 692,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903882.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1972G>T",
"hgvs_p": "p.Ala658Ser",
"transcript": "ENST00000912186.1",
"protein_id": "ENSP00000582245.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 688,
"cds_start": 1972,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912186.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1960G>T",
"hgvs_p": "p.Ala654Ser",
"transcript": "NM_001178137.2",
"protein_id": "NP_001171608.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 684,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178137.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1960G>T",
"hgvs_p": "p.Ala654Ser",
"transcript": "ENST00000903860.1",
"protein_id": "ENSP00000573920.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 684,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903860.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1960G>T",
"hgvs_p": "p.Ala654Ser",
"transcript": "ENST00000903863.1",
"protein_id": "ENSP00000573922.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 684,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903863.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1960G>T",
"hgvs_p": "p.Ala654Ser",
"transcript": "ENST00000903874.1",
"protein_id": "ENSP00000573933.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 684,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903874.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB3",
"gene_hgnc_id": 21746,
"hgvs_c": "c.1960G>T",
"hgvs_p": "p.Ala654Ser",
"transcript": "ENST00000903876.1",
"protein_id": "ENSP00000573935.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 684,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2055,
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{
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"hom_count_reference_population": 0,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.218,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_014912.5",
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"effects": [
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"inheritance_mode": "Unknown",
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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
}