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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: 11-2302910-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2302910&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2302910,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_139022.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Arg45Cys",
"transcript": "NM_139022.3",
"protein_id": "NP_620591.3",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 320,
"cds_start": 133,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000182290.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139022.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Arg45Cys",
"transcript": "ENST00000182290.9",
"protein_id": "ENSP00000182290.5",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 320,
"cds_start": 133,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139022.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000182290.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15Cys",
"transcript": "ENST00000381117.1",
"protein_id": "ENSP00000370509.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 265,
"cds_start": 43,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381117.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "n.133C>T",
"hgvs_p": null,
"transcript": "ENST00000446063.6",
"protein_id": "ENSP00000395018.2",
"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": "ENST00000446063.6"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "n.136C>T",
"hgvs_p": null,
"transcript": "ENST00000483227.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000483227.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Arg45Cys",
"transcript": "ENST00000961152.1",
"protein_id": "ENSP00000631211.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 344,
"cds_start": 133,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961152.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.100C>T",
"hgvs_p": "p.Arg34Cys",
"transcript": "ENST00000451520.6",
"protein_id": "ENSP00000405205.2",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 309,
"cds_start": 100,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451520.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Arg45Cys",
"transcript": "ENST00000855795.1",
"protein_id": "ENSP00000525854.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 292,
"cds_start": 133,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855795.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Arg45Cys",
"transcript": "ENST00000855796.1",
"protein_id": "ENSP00000525855.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 267,
"cds_start": 133,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855796.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15Cys",
"transcript": "ENST00000612299.4",
"protein_id": "ENSP00000482901.1",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 265,
"cds_start": 43,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612299.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Arg45Cys",
"transcript": "ENST00000381121.7",
"protein_id": "ENSP00000370513.3",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 253,
"cds_start": 133,
"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": "ENST00000381121.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "XM_005252719.5",
"protein_id": "XP_005252776.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 378,
"cds_start": 238,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252719.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "XM_011519815.4",
"protein_id": "XP_011518117.4",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 353,
"cds_start": 238,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519815.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "XM_011519818.4",
"protein_id": "XP_011518120.4",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 330,
"cds_start": 238,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519818.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15Cys",
"transcript": "XM_011519819.2",
"protein_id": "XP_011518121.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 313,
"cds_start": 43,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519819.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15Cys",
"transcript": "XM_047426209.1",
"protein_id": "XP_047282165.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 313,
"cds_start": 43,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426209.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "XM_011519822.2",
"protein_id": "XP_011518124.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 288,
"cds_start": 238,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519822.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "XM_005252720.5",
"protein_id": "XP_005252777.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 283,
"cds_start": 238,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252720.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "XM_047426212.1",
"protein_id": "XP_047282168.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 212,
"cds_start": 238,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426212.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN32",
"gene_hgnc_id": 13410,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "XM_047426215.1",
"protein_id": "XP_047282171.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 189,
"cds_start": 238,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.-137G>A",
"hgvs_p": null,
"transcript": "ENST00000856028.1",
"protein_id": "ENSP00000526087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856028.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.-88G>A",
"hgvs_p": null,
"transcript": "ENST00000856030.1",
"protein_id": "ENSP00000526089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856030.1"
},
{
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],
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14094701409339905,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.158,
"phylop100way_prediction": "Benign",
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"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_139022.3",
"gene_symbol": "TSPAN32",
"hgnc_id": 13410,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Arg45Cys"
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{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000856028.1",
"gene_symbol": "C11orf21",
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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
}