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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: 11-72293407-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72293407&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72293407,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_030813.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.2084G>C",
"hgvs_p": "p.Arg695Pro",
"transcript": "NM_030813.6",
"protein_id": "NP_110440.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 707,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000294053.9",
"biotype": "protein_coding",
"feature": "NM_030813.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.2084G>C",
"hgvs_p": "p.Arg695Pro",
"transcript": "ENST00000294053.9",
"protein_id": "ENSP00000294053.3",
"transcript_support_level": 1,
"aa_start": 695,
"aa_end": null,
"aa_length": 707,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_030813.6",
"biotype": "protein_coding",
"feature": "ENST00000294053.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1994G>C",
"hgvs_p": "p.Arg665Pro",
"transcript": "NM_001258392.3",
"protein_id": "NP_001245321.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 677,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000538039.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258392.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1994G>C",
"hgvs_p": "p.Arg665Pro",
"transcript": "ENST00000538039.6",
"protein_id": "ENSP00000441518.1",
"transcript_support_level": 2,
"aa_start": 665,
"aa_end": null,
"aa_length": 677,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001258392.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538039.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.*783G>C",
"hgvs_p": null,
"transcript": "ENST00000538021.5",
"protein_id": "ENSP00000445180.2",
"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": "ENST00000538021.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "n.*783G>C",
"hgvs_p": null,
"transcript": "ENST00000538021.5",
"protein_id": "ENSP00000445180.2",
"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": "ENST00000538021.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.2057G>C",
"hgvs_p": "p.Arg686Pro",
"transcript": "ENST00000955687.1",
"protein_id": "ENSP00000625746.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 698,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955687.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.2039G>C",
"hgvs_p": "p.Arg680Pro",
"transcript": "ENST00000543042.6",
"protein_id": "ENSP00000439746.2",
"transcript_support_level": 2,
"aa_start": 680,
"aa_end": null,
"aa_length": 692,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543042.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.2027G>C",
"hgvs_p": "p.Arg676Pro",
"transcript": "ENST00000955683.1",
"protein_id": "ENSP00000625742.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 688,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955683.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.2024G>C",
"hgvs_p": "p.Arg675Pro",
"transcript": "ENST00000866362.1",
"protein_id": "ENSP00000536421.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 687,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866362.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.2024G>C",
"hgvs_p": "p.Arg675Pro",
"transcript": "ENST00000866363.1",
"protein_id": "ENSP00000536422.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 687,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866363.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1991G>C",
"hgvs_p": "p.Arg664Pro",
"transcript": "ENST00000955688.1",
"protein_id": "ENSP00000625747.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 676,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955688.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1979G>C",
"hgvs_p": "p.Arg660Pro",
"transcript": "ENST00000955686.1",
"protein_id": "ENSP00000625745.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 672,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955686.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1949G>C",
"hgvs_p": "p.Arg650Pro",
"transcript": "NM_001258394.3",
"protein_id": "NP_001245323.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 662,
"cds_start": 1949,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258394.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1916G>C",
"hgvs_p": "p.Arg639Pro",
"transcript": "ENST00000938927.1",
"protein_id": "ENSP00000608986.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 651,
"cds_start": 1916,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938927.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1907G>C",
"hgvs_p": "p.Arg636Pro",
"transcript": "NM_001258393.3",
"protein_id": "NP_001245322.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 648,
"cds_start": 1907,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258393.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1907G>C",
"hgvs_p": "p.Arg636Pro",
"transcript": "ENST00000340729.9",
"protein_id": "ENSP00000340385.5",
"transcript_support_level": 2,
"aa_start": 636,
"aa_end": null,
"aa_length": 648,
"cds_start": 1907,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340729.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1874G>C",
"hgvs_p": "p.Arg625Pro",
"transcript": "ENST00000955685.1",
"protein_id": "ENSP00000625744.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 637,
"cds_start": 1874,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955685.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1865G>C",
"hgvs_p": "p.Arg622Pro",
"transcript": "ENST00000955684.1",
"protein_id": "ENSP00000625743.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 634,
"cds_start": 1865,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955684.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1682G>C",
"hgvs_p": "p.Arg561Pro",
"transcript": "ENST00000866364.1",
"protein_id": "ENSP00000536423.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 573,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866364.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1997G>C",
"hgvs_p": "p.Arg666Pro",
"transcript": "XM_005274320.2",
"protein_id": "XP_005274377.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 678,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274320.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPB",
"gene_hgnc_id": 30664,
"hgvs_c": "c.1859G>C",
"hgvs_p": "p.Arg620Pro",
"transcript": "XM_047427655.1",
"protein_id": "XP_047283611.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 632,
"cds_start": 1859,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427655.1"
},
{
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{
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],
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],
"gene_symbol": "CLPB",
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"frequency_reference_population": 6.840563e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.15784186124801636,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.157,
"revel_prediction": "Benign",
"alphamissense_score": 0.2021,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.501,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030813.6",
"gene_symbol": "CLPB",
"hgnc_id": 30664,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2084G>C",
"hgvs_p": "p.Arg695Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000794920.1",
"gene_symbol": "ENSG00000255843",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.88-9205C>G",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}