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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: 17-63689571-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63689571&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63689571,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_203351.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.899G>T",
"hgvs_p": "p.Arg300Leu",
"transcript": "NM_002401.5",
"protein_id": "NP_002392.2",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 626,
"cds_start": 899,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361733.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002401.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.899G>T",
"hgvs_p": "p.Arg300Leu",
"transcript": "ENST00000361733.8",
"protein_id": "ENSP00000354485.4",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 626,
"cds_start": 899,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002401.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361733.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Arg331Leu",
"transcript": "ENST00000361357.7",
"protein_id": "ENSP00000354927.3",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 657,
"cds_start": 992,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361357.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Arg331Leu",
"transcript": "ENST00000579585.5",
"protein_id": "ENSP00000461988.1",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 657,
"cds_start": 992,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579585.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.980G>T",
"hgvs_p": "p.Arg327Leu",
"transcript": "ENST00000584573.5",
"protein_id": "ENSP00000464130.1",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 653,
"cds_start": 980,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584573.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.887G>T",
"hgvs_p": "p.Arg296Leu",
"transcript": "ENST00000577395.5",
"protein_id": "ENSP00000462086.1",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 622,
"cds_start": 887,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577395.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "n.*724G>T",
"hgvs_p": null,
"transcript": "ENST00000577597.5",
"protein_id": "ENSP00000462917.1",
"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": "ENST00000577597.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "n.*724G>T",
"hgvs_p": null,
"transcript": "ENST00000577597.5",
"protein_id": "ENSP00000462917.1",
"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": "ENST00000577597.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Arg331Leu",
"transcript": "NM_203351.3",
"protein_id": "NP_976226.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 657,
"cds_start": 992,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203351.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.980G>T",
"hgvs_p": "p.Arg327Leu",
"transcript": "NM_001363768.2",
"protein_id": "NP_001350697.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 653,
"cds_start": 980,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363768.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.920G>T",
"hgvs_p": "p.Arg307Leu",
"transcript": "ENST00000963889.1",
"protein_id": "ENSP00000633948.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 633,
"cds_start": 920,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963889.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.908G>T",
"hgvs_p": "p.Arg303Leu",
"transcript": "ENST00000963891.1",
"protein_id": "ENSP00000633950.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 629,
"cds_start": 908,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963891.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.887G>T",
"hgvs_p": "p.Arg296Leu",
"transcript": "NM_001330431.2",
"protein_id": "NP_001317360.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 622,
"cds_start": 887,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330431.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.887G>T",
"hgvs_p": "p.Arg296Leu",
"transcript": "ENST00000963893.1",
"protein_id": "ENSP00000633952.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 621,
"cds_start": 887,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963893.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.887G>T",
"hgvs_p": "p.Arg296Leu",
"transcript": "ENST00000963892.1",
"protein_id": "ENSP00000633951.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 590,
"cds_start": 887,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963892.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.746G>T",
"hgvs_p": "p.Arg249Leu",
"transcript": "ENST00000963890.1",
"protein_id": "ENSP00000633949.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 575,
"cds_start": 746,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963890.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.632G>T",
"hgvs_p": "p.Arg211Leu",
"transcript": "ENST00000963894.1",
"protein_id": "ENSP00000633953.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 537,
"cds_start": 632,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963894.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Arg331Leu",
"transcript": "XM_005257378.3",
"protein_id": "XP_005257435.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 532,
"cds_start": 992,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257378.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.980G>T",
"hgvs_p": "p.Arg327Leu",
"transcript": "XM_047436084.1",
"protein_id": "XP_047292040.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 528,
"cds_start": 980,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436084.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.899G>T",
"hgvs_p": "p.Arg300Leu",
"transcript": "XM_047436085.1",
"protein_id": "XP_047292041.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 501,
"cds_start": 899,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436085.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.887G>T",
"hgvs_p": "p.Arg296Leu",
"transcript": "XM_047436086.1",
"protein_id": "XP_047292042.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 497,
"cds_start": 887,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436086.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K3",
"gene_hgnc_id": 6855,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Arg331Leu",
"transcript": "XM_047436087.1",
"protein_id": "XP_047292043.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 449,
"cds_start": 992,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
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"cdna_length": null,
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{
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_heteroplasmic": null,
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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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"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.893,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PP3"
],
"verdict": "Uncertain_significance",
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"inheritance_mode": "AD",
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{
"score": 3,
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"PP3"
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"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 3,
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"PP3"
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}