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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: 5-139322683-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=139322683&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 139322683,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394805.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_018834.6",
"protein_id": "NP_061322.2",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 847,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": "ENST00000394805.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "ENST00000394805.8",
"protein_id": "ENSP00000378284.3",
"transcript_support_level": 1,
"aa_start": 622,
"aa_end": null,
"aa_length": 847,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": "NM_018834.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "ENST00000502929.5",
"protein_id": "ENSP00000422319.1",
"transcript_support_level": 2,
"aa_start": 622,
"aa_end": null,
"aa_length": 895,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 4373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "ENST00000618441.5",
"protein_id": "ENSP00000482895.1",
"transcript_support_level": 1,
"aa_start": 622,
"aa_end": null,
"aa_length": 847,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2292,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "n.1173A>G",
"hgvs_p": null,
"transcript": "ENST00000502422.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "n.5584A>G",
"hgvs_p": null,
"transcript": "ENST00000505625.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001400441.1",
"protein_id": "NP_001387370.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 895,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 5242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001400442.1",
"protein_id": "NP_001387371.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 895,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 5399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001400443.1",
"protein_id": "NP_001387372.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 895,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 5238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001400444.1",
"protein_id": "NP_001387373.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 895,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 5522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001400445.1",
"protein_id": "NP_001387374.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 895,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 3299,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "ENST00000394800.6",
"protein_id": "ENSP00000378279.2",
"transcript_support_level": 5,
"aa_start": 622,
"aa_end": null,
"aa_length": 895,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 5513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001194954.2",
"protein_id": "NP_001181883.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 847,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001194955.2",
"protein_id": "NP_001181884.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 847,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 5292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001400447.1",
"protein_id": "NP_001387376.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 847,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2255,
"cdna_end": null,
"cdna_length": 5217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001400448.1",
"protein_id": "NP_001387377.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 847,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 5378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001400450.1",
"protein_id": "NP_001387379.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 847,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001400451.1",
"protein_id": "NP_001387380.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 847,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2420,
"cdna_end": null,
"cdna_length": 5382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001400452.1",
"protein_id": "NP_001387381.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 847,
"cds_start": 1864,
"cds_end": null,
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"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 5502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001400453.1",
"protein_id": "NP_001387382.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 847,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001400454.1",
"protein_id": "NP_001387383.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 847,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 5379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala",
"transcript": "NM_001400455.1",
"protein_id": "NP_001387384.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 847,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 5444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATR3",
"gene_hgnc_id": 6912,
"hgvs_c": "c.1864A>G",
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"gnomad_exomes_af": 0.0000184703,
"gnomad_genomes_af": 0.0000131254,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05464881658554077,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.0571,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.609,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000394805.8",
"gene_symbol": "MATR3",
"hgnc_id": 6912,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Thr622Ala"
}
],
"clinvar_disease": "Amyotrophic lateral sclerosis type 21",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Amyotrophic lateral sclerosis type 21",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}