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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: 6-169223271-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=169223271&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 169223271,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003247.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2978A>G",
"hgvs_p": "p.Asn993Ser",
"transcript": "NM_003247.5",
"protein_id": "NP_003238.2",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 3123,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "ENST00000617924.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003247.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2978A>G",
"hgvs_p": "p.Asn993Ser",
"transcript": "ENST00000617924.6",
"protein_id": "ENSP00000482784.1",
"transcript_support_level": 1,
"aa_start": 993,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 3123,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "NM_003247.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617924.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2978A>G",
"hgvs_p": "p.Asn993Ser",
"transcript": "ENST00000366787.7",
"protein_id": "ENSP00000355751.3",
"transcript_support_level": 1,
"aa_start": 993,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 3228,
"cdna_end": null,
"cdna_length": 5811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366787.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2993A>G",
"hgvs_p": "p.Asn998Ser",
"transcript": "ENST00000649844.1",
"protein_id": "ENSP00000497834.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2993,
"cds_end": null,
"cds_length": 3534,
"cdna_start": 3130,
"cdna_end": null,
"cdna_length": 5699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649844.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2978A>G",
"hgvs_p": "p.Asn993Ser",
"transcript": "ENST00000676498.1",
"protein_id": "ENSP00000504820.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676498.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2978A>G",
"hgvs_p": "p.Asn993Ser",
"transcript": "ENST00000676760.1",
"protein_id": "ENSP00000503020.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 3054,
"cdna_end": null,
"cdna_length": 5621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676760.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2978A>G",
"hgvs_p": "p.Asn993Ser",
"transcript": "ENST00000906005.1",
"protein_id": "ENSP00000576064.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 3149,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906005.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2978A>G",
"hgvs_p": "p.Asn993Ser",
"transcript": "ENST00000969636.1",
"protein_id": "ENSP00000639695.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 3121,
"cdna_end": null,
"cdna_length": 5698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969636.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2978A>G",
"hgvs_p": "p.Asn993Ser",
"transcript": "ENST00000969639.1",
"protein_id": "ENSP00000639698.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 3115,
"cdna_end": null,
"cdna_length": 5400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969639.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2945A>G",
"hgvs_p": "p.Asn982Ser",
"transcript": "ENST00000969637.1",
"protein_id": "ENSP00000639696.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2945,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3090,
"cdna_end": null,
"cdna_length": 5383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969637.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2924A>G",
"hgvs_p": "p.Asn975Ser",
"transcript": "ENST00000927081.1",
"protein_id": "ENSP00000597140.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 3069,
"cdna_end": null,
"cdna_length": 5647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927081.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2837A>G",
"hgvs_p": "p.Asn946Ser",
"transcript": "ENST00000927078.1",
"protein_id": "ENSP00000597137.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2837,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 3103,
"cdna_end": null,
"cdna_length": 5679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927078.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2837A>G",
"hgvs_p": "p.Asn946Ser",
"transcript": "ENST00000927079.1",
"protein_id": "ENSP00000597138.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2837,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 3151,
"cdna_end": null,
"cdna_length": 5729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927079.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2978A>G",
"hgvs_p": "p.Asn993Ser",
"transcript": "ENST00000927080.1",
"protein_id": "ENSP00000597139.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 3173,
"cdna_end": null,
"cdna_length": 5608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927080.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2807A>G",
"hgvs_p": "p.Asn936Ser",
"transcript": "ENST00000676869.1",
"protein_id": "ENSP00000504488.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 2867,
"cdna_end": null,
"cdna_length": 5140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676869.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2807A>G",
"hgvs_p": "p.Asn936Ser",
"transcript": "ENST00000969635.1",
"protein_id": "ENSP00000639694.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2807,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 5530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969635.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2804A>G",
"hgvs_p": "p.Asn935Ser",
"transcript": "NM_001381939.1",
"protein_id": "NP_001368868.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2804,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2949,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381939.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2804A>G",
"hgvs_p": "p.Asn935Ser",
"transcript": "ENST00000676628.1",
"protein_id": "ENSP00000504416.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2804,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3060,
"cdna_end": null,
"cdna_length": 5635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676628.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2804A>G",
"hgvs_p": "p.Asn935Ser",
"transcript": "ENST00000906004.1",
"protein_id": "ENSP00000576063.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2804,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3124,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906004.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.2747A>G",
"hgvs_p": "p.Asn916Ser",
"transcript": "NM_001381942.1",
"protein_id": "NP_001368871.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2747,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 3551,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381942.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "c.611A>G",
"hgvs_p": "p.Asn204Ser",
"transcript": "ENST00000969638.1",
"protein_id": "ENSP00000639697.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 383,
"cds_start": 611,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969638.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS2",
"gene_hgnc_id": 11786,
"hgvs_c": "n.170A>G",
"hgvs_p": null,
"transcript": "ENST00000488355.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
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{
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],
"gene_symbol": "THBS2",
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"dbsnp": null,
"frequency_reference_population": 6.8422855e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84229e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8960805535316467,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.777,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.829,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.435,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003247.5",
"gene_symbol": "THBS2",
"hgnc_id": 11786,
"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Asn993Ser"
},
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000444188.3",
"gene_symbol": "THBS2-AS1",
"hgnc_id": 56059,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.739+8784T>C",
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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
}