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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: 19-18169200-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18169200&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18169200,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005027.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2093A>T",
"hgvs_p": "p.His698Leu",
"transcript": "NM_005027.4",
"protein_id": "NP_005018.2",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 728,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222254.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005027.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2093A>T",
"hgvs_p": "p.His698Leu",
"transcript": "ENST00000222254.13",
"protein_id": "ENSP00000222254.6",
"transcript_support_level": 1,
"aa_start": 698,
"aa_end": null,
"aa_length": 728,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005027.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222254.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268173",
"gene_hgnc_id": null,
"hgvs_c": "n.2093A>T",
"hgvs_p": null,
"transcript": "ENST00000593731.1",
"protein_id": "ENSP00000471914.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000593731.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.*1121A>T",
"hgvs_p": null,
"transcript": "ENST00000617130.6",
"protein_id": "ENSP00000477864.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000617130.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.*1121A>T",
"hgvs_p": null,
"transcript": "ENST00000617130.6",
"protein_id": "ENSP00000477864.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000617130.6"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2123A>T",
"hgvs_p": "p.His708Leu",
"transcript": "ENST00000925098.1",
"protein_id": "ENSP00000595157.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 738,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925098.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2093A>T",
"hgvs_p": "p.His698Leu",
"transcript": "ENST00000874456.1",
"protein_id": "ENSP00000544515.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 728,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874456.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2093A>T",
"hgvs_p": "p.His698Leu",
"transcript": "ENST00000874458.1",
"protein_id": "ENSP00000544517.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 728,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874458.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2093A>T",
"hgvs_p": "p.His698Leu",
"transcript": "ENST00000965709.1",
"protein_id": "ENSP00000635768.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 728,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965709.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2093A>T",
"hgvs_p": "p.His698Leu",
"transcript": "ENST00000965710.1",
"protein_id": "ENSP00000635769.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 728,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965710.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2090A>T",
"hgvs_p": "p.His697Leu",
"transcript": "ENST00000925097.1",
"protein_id": "ENSP00000595156.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 727,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925097.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2087A>T",
"hgvs_p": "p.His696Leu",
"transcript": "ENST00000874453.1",
"protein_id": "ENSP00000544512.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 726,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874453.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2087A>T",
"hgvs_p": "p.His696Leu",
"transcript": "ENST00000925100.1",
"protein_id": "ENSP00000595159.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 726,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925100.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2075A>T",
"hgvs_p": "p.His692Leu",
"transcript": "ENST00000874457.1",
"protein_id": "ENSP00000544516.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 722,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874457.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2066A>T",
"hgvs_p": "p.His689Leu",
"transcript": "ENST00000874459.1",
"protein_id": "ENSP00000544518.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 719,
"cds_start": 2066,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874459.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2021A>T",
"hgvs_p": "p.His674Leu",
"transcript": "ENST00000925099.1",
"protein_id": "ENSP00000595158.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 704,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925099.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.2000A>T",
"hgvs_p": "p.His667Leu",
"transcript": "ENST00000874454.1",
"protein_id": "ENSP00000544513.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 697,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874454.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1961A>T",
"hgvs_p": "p.His654Leu",
"transcript": "ENST00000925096.1",
"protein_id": "ENSP00000595155.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 684,
"cds_start": 1961,
"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": "ENST00000925096.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1961A>T",
"hgvs_p": "p.His654Leu",
"transcript": "ENST00000925101.1",
"protein_id": "ENSP00000595160.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 684,
"cds_start": 1961,
"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": "ENST00000925101.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1910A>T",
"hgvs_p": "p.His637Leu",
"transcript": "ENST00000874455.1",
"protein_id": "ENSP00000544514.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 667,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874455.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.*696A>T",
"hgvs_p": null,
"transcript": "ENST00000426902.5",
"protein_id": "ENSP00000395636.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000426902.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.*184A>T",
"hgvs_p": null,
"transcript": "ENST00000464016.3",
"protein_id": "ENSP00000476825.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_classification": "Uncertain_significance",
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{
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"criteria": [
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": 2,
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}