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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: 1-155198444-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155198444&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155198444,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001407490.1",
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2039G>C",
"hgvs_p": "p.Arg680Pro",
"transcript": "NM_007112.5",
"protein_id": "NP_009043.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 956,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368378.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007112.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2039G>C",
"hgvs_p": "p.Arg680Pro",
"transcript": "ENST00000368378.7",
"protein_id": "ENSP00000357362.3",
"transcript_support_level": 1,
"aa_start": 680,
"aa_end": null,
"aa_length": 956,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007112.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368378.7"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2012G>C",
"hgvs_p": "p.Arg671Pro",
"transcript": "ENST00000541576.5",
"protein_id": "ENSP00000444792.2",
"transcript_support_level": 1,
"aa_start": 671,
"aa_end": null,
"aa_length": 947,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541576.5"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.626G>C",
"hgvs_p": "p.Arg209Pro",
"transcript": "ENST00000541990.5",
"protein_id": "ENSP00000437353.1",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 485,
"cds_start": 626,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541990.5"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2210G>C",
"hgvs_p": "p.Arg737Pro",
"transcript": "NM_001407490.1",
"protein_id": "NP_001394419.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2210,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407490.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2048G>C",
"hgvs_p": "p.Arg683Pro",
"transcript": "NM_001407487.1",
"protein_id": "NP_001394416.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 959,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407487.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2048G>C",
"hgvs_p": "p.Arg683Pro",
"transcript": "ENST00000902275.1",
"protein_id": "ENSP00000572334.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 959,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902275.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2039G>C",
"hgvs_p": "p.Arg680Pro",
"transcript": "ENST00000902272.1",
"protein_id": "ENSP00000572331.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 954,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902272.1"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2012G>C",
"hgvs_p": "p.Arg671Pro",
"transcript": "NM_001252607.2",
"protein_id": "NP_001239536.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 947,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252607.2"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1949G>C",
"hgvs_p": "p.Arg650Pro",
"transcript": "NM_001407554.1",
"protein_id": "NP_001394483.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 926,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407554.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2039G>C",
"hgvs_p": "p.Arg680Pro",
"transcript": "ENST00000960680.1",
"protein_id": "ENSP00000630739.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 925,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960680.1"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1928G>C",
"hgvs_p": "p.Arg643Pro",
"transcript": "NM_001407555.1",
"protein_id": "NP_001394484.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 919,
"cds_start": 1928,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407555.1"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1928G>C",
"hgvs_p": "p.Arg643Pro",
"transcript": "ENST00000902273.1",
"protein_id": "ENSP00000572332.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 919,
"cds_start": 1928,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902273.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1925G>C",
"hgvs_p": "p.Arg642Pro",
"transcript": "NM_001407556.1",
"protein_id": "NP_001394485.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 918,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407556.1"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1925G>C",
"hgvs_p": "p.Arg642Pro",
"transcript": "NM_001407557.1",
"protein_id": "NP_001394486.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 918,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407557.1"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2039G>C",
"hgvs_p": "p.Arg680Pro",
"transcript": "NM_001407488.1",
"protein_id": "NP_001394417.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 894,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407488.1"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1820G>C",
"hgvs_p": "p.Arg607Pro",
"transcript": "ENST00000960681.1",
"protein_id": "ENSP00000630740.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 883,
"cds_start": 1820,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960681.1"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1814G>C",
"hgvs_p": "p.Arg605Pro",
"transcript": "NM_001407558.1",
"protein_id": "NP_001394487.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 881,
"cds_start": 1814,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407558.1"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1721G>C",
"hgvs_p": "p.Arg574Pro",
"transcript": "ENST00000960679.1",
"protein_id": "ENSP00000630738.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 850,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960679.1"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2039G>C",
"hgvs_p": "p.Arg680Pro",
"transcript": "ENST00000902274.1",
"protein_id": "ENSP00000572333.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 843,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902274.1"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1679G>C",
"hgvs_p": "p.Arg560Pro",
"transcript": "NM_001252608.2",
"protein_id": "NP_001239537.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 836,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252608.2"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1679G>C",
"hgvs_p": "p.Arg560Pro",
"transcript": "ENST00000457183.6",
"protein_id": "ENSP00000392207.2",
"transcript_support_level": 2,
"aa_start": 560,
"aa_end": null,
"aa_length": 836,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}