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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: 1-53255144-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=53255144&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 53255144,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004631.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2476G>A",
"hgvs_p": "p.Ala826Thr",
"transcript": "NM_004631.5",
"protein_id": "NP_004622.2",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 963,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306052.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004631.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2476G>A",
"hgvs_p": "p.Ala826Thr",
"transcript": "ENST00000306052.12",
"protein_id": "ENSP00000303634.6",
"transcript_support_level": 1,
"aa_start": 826,
"aa_end": null,
"aa_length": 963,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004631.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306052.12"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2476G>A",
"hgvs_p": "p.Ala826Thr",
"transcript": "ENST00000371454.6",
"protein_id": "ENSP00000360509.2",
"transcript_support_level": 1,
"aa_start": 826,
"aa_end": null,
"aa_length": 904,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371454.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1966G>A",
"hgvs_p": "p.Ala656Thr",
"transcript": "ENST00000347547.7",
"protein_id": "ENSP00000334522.2",
"transcript_support_level": 1,
"aa_start": 656,
"aa_end": null,
"aa_length": 793,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347547.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.1864G>A",
"hgvs_p": "p.Ala622Thr",
"transcript": "ENST00000354412.7",
"protein_id": "ENSP00000346391.3",
"transcript_support_level": 1,
"aa_start": 622,
"aa_end": null,
"aa_length": 700,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354412.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2419G>A",
"hgvs_p": "p.Ala807Thr",
"transcript": "ENST00000914986.1",
"protein_id": "ENSP00000585045.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 944,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914986.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2419G>A",
"hgvs_p": "p.Ala807Thr",
"transcript": "ENST00000914998.1",
"protein_id": "ENSP00000585057.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 944,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914998.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2389G>A",
"hgvs_p": "p.Ala797Thr",
"transcript": "ENST00000915001.1",
"protein_id": "ENSP00000585060.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 934,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915001.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2476G>A",
"hgvs_p": "p.Ala826Thr",
"transcript": "ENST00000667377.1",
"protein_id": "ENSP00000499405.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 926,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000667377.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2353G>A",
"hgvs_p": "p.Ala785Thr",
"transcript": "ENST00000914990.1",
"protein_id": "ENSP00000585049.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 922,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914990.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2350G>A",
"hgvs_p": "p.Ala784Thr",
"transcript": "ENST00000914969.1",
"protein_id": "ENSP00000585028.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 921,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914969.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2515G>A",
"hgvs_p": "p.Ala839Thr",
"transcript": "ENST00000945255.1",
"protein_id": "ENSP00000615314.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 917,
"cds_start": 2515,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945255.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2476G>A",
"hgvs_p": "p.Ala826Thr",
"transcript": "NM_001018054.3",
"protein_id": "NP_001018064.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 904,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018054.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2290G>A",
"hgvs_p": "p.Ala764Thr",
"transcript": "ENST00000945260.1",
"protein_id": "ENSP00000615319.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 901,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945260.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2476G>A",
"hgvs_p": "p.Ala826Thr",
"transcript": "ENST00000659993.1",
"protein_id": "ENSP00000499697.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 888,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000659993.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2251G>A",
"hgvs_p": "p.Ala751Thr",
"transcript": "ENST00000668448.1",
"protein_id": "ENSP00000499273.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 888,
"cds_start": 2251,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000668448.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2389G>A",
"hgvs_p": "p.Ala797Thr",
"transcript": "ENST00000915002.1",
"protein_id": "ENSP00000585061.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 875,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915002.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2353G>A",
"hgvs_p": "p.Ala785Thr",
"transcript": "ENST00000914974.1",
"protein_id": "ENSP00000585033.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 863,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914974.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2350G>A",
"hgvs_p": "p.Ala784Thr",
"transcript": "ENST00000914980.1",
"protein_id": "ENSP00000585039.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 862,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914980.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2125G>A",
"hgvs_p": "p.Ala709Thr",
"transcript": "ENST00000945259.1",
"protein_id": "ENSP00000615318.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 846,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945259.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Ala704Thr",
"transcript": "ENST00000465675.6",
"protein_id": "ENSP00000437009.2",
"transcript_support_level": 2,
"aa_start": 704,
"aa_end": null,
"aa_length": 841,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465675.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP8",
"gene_hgnc_id": 6700,
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Ala697Thr",
"transcript": "ENST00000662198.1",
"protein_id": "ENSP00000499355.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 834,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.194,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004631.5",
"gene_symbol": "LRP8",
"hgnc_id": 6700,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
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"hgvs_p": "p.Ala826Thr"
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{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_947355.3",
"gene_symbol": "LOC105378728",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.3884C>T",
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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
}