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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: 1-155197546-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155197546&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155197546,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001407490.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2416G>C",
"hgvs_p": "p.Val806Leu",
"transcript": "NM_007112.5",
"protein_id": "NP_009043.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 956,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2437,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": "ENST00000368378.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007112.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2416G>C",
"hgvs_p": "p.Val806Leu",
"transcript": "ENST00000368378.7",
"protein_id": "ENSP00000357362.3",
"transcript_support_level": 1,
"aa_start": 806,
"aa_end": null,
"aa_length": 956,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2437,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": "NM_007112.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368378.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2389G>C",
"hgvs_p": "p.Val797Leu",
"transcript": "ENST00000541576.5",
"protein_id": "ENSP00000444792.2",
"transcript_support_level": 1,
"aa_start": 797,
"aa_end": null,
"aa_length": 947,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541576.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1003G>C",
"hgvs_p": "p.Val335Leu",
"transcript": "ENST00000541990.5",
"protein_id": "ENSP00000437353.1",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 485,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 2423,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541990.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2587G>C",
"hgvs_p": "p.Val863Leu",
"transcript": "NM_001407490.1",
"protein_id": "NP_001394419.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2587,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 3264,
"cdna_end": null,
"cdna_length": 3972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407490.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2425G>C",
"hgvs_p": "p.Val809Leu",
"transcript": "NM_001407487.1",
"protein_id": "NP_001394416.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 959,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407487.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2425G>C",
"hgvs_p": "p.Val809Leu",
"transcript": "ENST00000902275.1",
"protein_id": "ENSP00000572334.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 959,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902275.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2416G>C",
"hgvs_p": "p.Val806Leu",
"transcript": "ENST00000902272.1",
"protein_id": "ENSP00000572331.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 954,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2483,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902272.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2389G>C",
"hgvs_p": "p.Val797Leu",
"transcript": "NM_001252607.2",
"protein_id": "NP_001239536.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 947,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252607.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2326G>C",
"hgvs_p": "p.Val776Leu",
"transcript": "NM_001407554.1",
"protein_id": "NP_001394483.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 926,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407554.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2323G>C",
"hgvs_p": "p.Val775Leu",
"transcript": "ENST00000960680.1",
"protein_id": "ENSP00000630739.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 925,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960680.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2305G>C",
"hgvs_p": "p.Val769Leu",
"transcript": "NM_001407555.1",
"protein_id": "NP_001394484.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 919,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 3034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407555.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2305G>C",
"hgvs_p": "p.Val769Leu",
"transcript": "ENST00000902273.1",
"protein_id": "ENSP00000572332.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 919,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902273.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2302G>C",
"hgvs_p": "p.Val768Leu",
"transcript": "NM_001407556.1",
"protein_id": "NP_001394485.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 918,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2610,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407556.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2302G>C",
"hgvs_p": "p.Val768Leu",
"transcript": "NM_001407557.1",
"protein_id": "NP_001394486.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 918,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2708,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407557.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2416G>C",
"hgvs_p": "p.Val806Leu",
"transcript": "NM_001407488.1",
"protein_id": "NP_001394417.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 894,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2437,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407488.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2197G>C",
"hgvs_p": "p.Val733Leu",
"transcript": "ENST00000960681.1",
"protein_id": "ENSP00000630740.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 883,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960681.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2191G>C",
"hgvs_p": "p.Val731Leu",
"transcript": "NM_001407558.1",
"protein_id": "NP_001394487.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 881,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407558.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2098G>C",
"hgvs_p": "p.Val700Leu",
"transcript": "ENST00000960679.1",
"protein_id": "ENSP00000630738.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 850,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960679.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2056G>C",
"hgvs_p": "p.Val686Leu",
"transcript": "NM_001252608.2",
"protein_id": "NP_001239537.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 836,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252608.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2056G>C",
"hgvs_p": "p.Val686Leu",
"transcript": "ENST00000457183.6",
"protein_id": "ENSP00000392207.2",
"transcript_support_level": 2,
"aa_start": 686,
"aa_end": null,
"aa_length": 836,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457183.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1879G>C",
"hgvs_p": "p.Val627Leu",
"transcript": "NM_001407559.1",
"protein_id": "NP_001394488.1",
"transcript_support_level": null,
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{
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.902,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001407490.1",
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"effects": [
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"inheritance_mode": "Unknown",
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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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],
"inheritance_mode": "",
"hgvs_c": "n.1030C>G",
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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
}