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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: 3-197791433-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=197791433&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 197791433,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001363887.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "NM_001365715.1",
"protein_id": "NP_001352644.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 777,
"cds_start": 155,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000425562.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365715.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "ENST00000425562.7",
"protein_id": "ENSP00000393579.2",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 777,
"cds_start": 155,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365715.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425562.7"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "ENST00000334859.8",
"protein_id": "ENSP00000334375.4",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 712,
"cds_start": 155,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334859.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "NM_001363887.1",
"protein_id": "NP_001350816.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 803,
"cds_start": 155,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363887.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "ENST00000428136.2",
"protein_id": "ENSP00000394763.2",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 803,
"cds_start": 155,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428136.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "ENST00000438796.6",
"protein_id": "ENSP00000399751.2",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 803,
"cds_start": 155,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438796.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "ENST00000892268.1",
"protein_id": "ENSP00000562327.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 793,
"cds_start": 155,
"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": "ENST00000892268.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "NM_001365716.1",
"protein_id": "NP_001352645.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 767,
"cds_start": 155,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365716.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "NM_001365717.1",
"protein_id": "NP_001352646.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 753,
"cds_start": 155,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365717.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "ENST00000926222.1",
"protein_id": "ENSP00000596281.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 753,
"cds_start": 155,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926222.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "ENST00000926223.1",
"protein_id": "ENSP00000596282.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 749,
"cds_start": 155,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926223.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "NM_001365718.1",
"protein_id": "NP_001352647.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 741,
"cds_start": 155,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365718.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "ENST00000892269.1",
"protein_id": "ENSP00000562328.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 741,
"cds_start": 155,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892269.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "ENST00000926224.1",
"protein_id": "ENSP00000596283.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 735,
"cds_start": 155,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926224.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "ENST00000414675.6",
"protein_id": "ENSP00000394965.2",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 725,
"cds_start": 155,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414675.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "ENST00000969020.1",
"protein_id": "ENSP00000639079.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 713,
"cds_start": 155,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969020.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "NM_032773.4",
"protein_id": "NP_116162.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 712,
"cds_start": 155,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032773.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "ENST00000926225.1",
"protein_id": "ENSP00000596284.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 703,
"cds_start": 155,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926225.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "ENST00000441090.6",
"protein_id": "ENSP00000394609.2",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 623,
"cds_start": 155,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441090.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "NM_001365719.2",
"protein_id": "NP_001352648.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 550,
"cds_start": 155,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365719.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "XM_005269367.4",
"protein_id": "XP_005269424.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 743,
"cds_start": 155,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269367.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRCH3",
"gene_hgnc_id": 28637,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"transcript": "XM_047449081.1",
"protein_id": "XP_047305037.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 735,
"cds_start": 155,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449081.1"
},
{
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{
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],
"gene_symbol": "LRCH3",
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3776746392250061,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.132,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.253,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001363887.1",
"gene_symbol": "LRCH3",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}