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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: 11-64224871-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64224871&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64224871,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001160389.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "NM_001033678.4",
"protein_id": "NP_001028850.2",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 253,
"cds_start": 257,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317459.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033678.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000317459.11",
"protein_id": "ENSP00000314073.6",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 253,
"cds_start": 257,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001033678.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317459.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.110G>A",
"hgvs_p": "p.Arg37Gln",
"transcript": "ENST00000394547.7",
"protein_id": "ENSP00000378051.3",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 204,
"cds_start": 110,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394547.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "NM_001160389.2",
"protein_id": "NP_001153861.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 255,
"cds_start": 257,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160389.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000394546.6",
"protein_id": "ENSP00000378050.2",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 255,
"cds_start": 257,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394546.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000877505.1",
"protein_id": "ENSP00000547564.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 255,
"cds_start": 257,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877505.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "NM_001160393.1",
"protein_id": "NP_001153865.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 254,
"cds_start": 257,
"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_001160393.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000877500.1",
"protein_id": "ENSP00000547559.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 254,
"cds_start": 257,
"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": "ENST00000877500.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000877501.1",
"protein_id": "ENSP00000547560.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 254,
"cds_start": 257,
"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": "ENST00000877501.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000935368.1",
"protein_id": "ENSP00000605427.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 254,
"cds_start": 257,
"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": "ENST00000935368.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000962781.1",
"protein_id": "ENSP00000632840.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 254,
"cds_start": 257,
"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": "ENST00000962781.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "NM_001160390.2",
"protein_id": "NP_001153862.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 253,
"cds_start": 257,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160390.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000877499.1",
"protein_id": "ENSP00000547558.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 253,
"cds_start": 257,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877499.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000877507.1",
"protein_id": "ENSP00000547566.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 253,
"cds_start": 257,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877507.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000935365.1",
"protein_id": "ENSP00000605424.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 253,
"cds_start": 257,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935365.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000962780.1",
"protein_id": "ENSP00000632839.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 253,
"cds_start": 257,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962780.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000962782.1",
"protein_id": "ENSP00000632841.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 252,
"cds_start": 257,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962782.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000962783.1",
"protein_id": "ENSP00000632842.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 250,
"cds_start": 257,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962783.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000877503.1",
"protein_id": "ENSP00000547562.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 249,
"cds_start": 257,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877503.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000935371.1",
"protein_id": "ENSP00000605430.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 249,
"cds_start": 257,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935371.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000877506.1",
"protein_id": "ENSP00000547565.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 239,
"cds_start": 257,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877506.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPT1",
"gene_hgnc_id": 20316,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86Gln",
"transcript": "ENST00000546133.6",
"protein_id": "ENSP00000439586.2",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 237,
"cds_start": 257,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546133.6"
},
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 4,
"criteria": [
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"verdict": "Uncertain_significance",
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"effects": [
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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
}