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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: 4-151128250-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=151128250&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 151128250,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001378121.1",
"consequences": [
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2849G>C",
"hgvs_p": "p.Arg950Pro",
"transcript": "NM_001378122.1",
"protein_id": "NP_001365051.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000604030.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378122.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2849G>C",
"hgvs_p": "p.Arg950Pro",
"transcript": "ENST00000604030.7",
"protein_id": "ENSP00000488951.1",
"transcript_support_level": 5,
"aa_start": 950,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378122.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604030.7"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2009G>C",
"hgvs_p": "p.Arg670Pro",
"transcript": "ENST00000409598.8",
"protein_id": "ENSP00000387030.4",
"transcript_support_level": 1,
"aa_start": 670,
"aa_end": null,
"aa_length": 767,
"cds_start": 2009,
"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": "ENST00000409598.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.1901G>C",
"hgvs_p": "p.Arg634Pro",
"transcript": "ENST00000427414.2",
"protein_id": "ENSP00000415694.1",
"transcript_support_level": 1,
"aa_start": 634,
"aa_end": null,
"aa_length": 731,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427414.2"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2849G>C",
"hgvs_p": "p.Arg950Pro",
"transcript": "ENST00000916625.1",
"protein_id": "ENSP00000586684.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2849,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916625.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2918G>C",
"hgvs_p": "p.Arg973Pro",
"transcript": "NM_001378121.1",
"protein_id": "NP_001365050.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378121.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2912G>C",
"hgvs_p": "p.Arg971Pro",
"transcript": "ENST00000875010.1",
"protein_id": "ENSP00000545069.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2912,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875010.1"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2867G>C",
"hgvs_p": "p.Arg956Pro",
"transcript": "ENST00000967013.1",
"protein_id": "ENSP00000637072.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2867,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967013.1"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2741G>C",
"hgvs_p": "p.Arg914Pro",
"transcript": "ENST00000967015.1",
"protein_id": "ENSP00000637074.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1046,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967015.1"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2843G>C",
"hgvs_p": "p.Arg948Pro",
"transcript": "ENST00000967014.1",
"protein_id": "ENSP00000637073.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2843,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967014.1"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2819G>C",
"hgvs_p": "p.Arg940Pro",
"transcript": "ENST00000875012.1",
"protein_id": "ENSP00000545071.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2819,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875012.1"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2810G>C",
"hgvs_p": "p.Arg937Pro",
"transcript": "ENST00000875008.1",
"protein_id": "ENSP00000545067.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2810,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875008.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2741G>C",
"hgvs_p": "p.Arg914Pro",
"transcript": "NM_001378123.1",
"protein_id": "NP_001365052.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378123.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2741G>C",
"hgvs_p": "p.Arg914Pro",
"transcript": "ENST00000652233.1",
"protein_id": "ENSP00000499127.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652233.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2708G>C",
"hgvs_p": "p.Arg903Pro",
"transcript": "ENST00000875009.1",
"protein_id": "ENSP00000545068.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875009.1"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2675G>C",
"hgvs_p": "p.Arg892Pro",
"transcript": "ENST00000916626.1",
"protein_id": "ENSP00000586685.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 989,
"cds_start": 2675,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916626.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2672G>C",
"hgvs_p": "p.Arg891Pro",
"transcript": "NM_001378124.1",
"protein_id": "NP_001365053.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 988,
"cds_start": 2672,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378124.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2645G>C",
"hgvs_p": "p.Arg882Pro",
"transcript": "ENST00000967012.1",
"protein_id": "ENSP00000637071.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 979,
"cds_start": 2645,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967012.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2534G>C",
"hgvs_p": "p.Arg845Pro",
"transcript": "ENST00000875007.1",
"protein_id": "ENSP00000545066.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 942,
"cds_start": 2534,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875007.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2078G>C",
"hgvs_p": "p.Arg693Pro",
"transcript": "NM_001009555.4",
"protein_id": "NP_001009555.3",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 790,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009555.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2078G>C",
"hgvs_p": "p.Arg693Pro",
"transcript": "NM_001378126.1",
"protein_id": "NP_001365055.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 790,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378126.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3D19",
"gene_hgnc_id": 30418,
"hgvs_c": "c.2078G>C",
"hgvs_p": "p.Arg693Pro",
"transcript": "NM_001378127.1",
"protein_id": "NP_001365056.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 790,
"cds_start": 2078,
"cds_end": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.33,
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"phylop100way_prediction": "Benign",
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{
"score": 0,
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"pathogenic_score": 2,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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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
}