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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: 1-155197555-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155197555&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "THBS3",
"hgnc_id": 11787,
"hgvs_c": "c.2578C>T",
"hgvs_p": "p.Arg860Cys",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001407490.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "THBS3-AS1",
"hgnc_id": 40582,
"hgvs_c": "n.1039G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000454348.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 28,
"alphamissense_prediction": null,
"alphamissense_score": 0.2729,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6944572925567627,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 2428,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2407,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_007112.5",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Arg803Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368378.7",
"protein_coding": true,
"protein_id": "NP_009043.1",
"strand": false,
"transcript": "NM_007112.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 2428,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2407,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000368378.7",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Arg803Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007112.5",
"protein_coding": true,
"protein_id": "ENSP00000357362.3",
"strand": false,
"transcript": "ENST00000368378.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 947,
"aa_ref": "R",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 2485,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2380,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000541576.5",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2380C>T",
"hgvs_p": "p.Arg794Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444792.2",
"strand": false,
"transcript": "ENST00000541576.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 485,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 2414,
"cds_end": null,
"cds_length": 1458,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000541990.5",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Arg332Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437353.1",
"strand": false,
"transcript": "ENST00000541990.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "R",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3972,
"cdna_start": 3255,
"cds_end": null,
"cds_length": 3042,
"cds_start": 2578,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001407490.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2578C>T",
"hgvs_p": "p.Arg860Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394419.1",
"strand": false,
"transcript": "NM_001407490.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 959,
"aa_ref": "R",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 2437,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2416,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001407487.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.Arg806Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394416.1",
"strand": false,
"transcript": "NM_001407487.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 959,
"aa_ref": "R",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 2437,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2416,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000902275.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.Arg806Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572334.1",
"strand": false,
"transcript": "ENST00000902275.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 954,
"aa_ref": "R",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 2474,
"cds_end": null,
"cds_length": 2865,
"cds_start": 2407,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000902272.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Arg803Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572331.1",
"strand": false,
"transcript": "ENST00000902272.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 947,
"aa_ref": "R",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 2401,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2380,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001252607.2",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2380C>T",
"hgvs_p": "p.Arg794Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001239536.1",
"strand": false,
"transcript": "NM_001252607.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 926,
"aa_ref": "R",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2317,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001407554.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2317C>T",
"hgvs_p": "p.Arg773Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394483.1",
"strand": false,
"transcript": "NM_001407554.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 925,
"aa_ref": "R",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000960680.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2314C>T",
"hgvs_p": "p.Arg772Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630739.1",
"strand": false,
"transcript": "ENST00000960680.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3034,
"cdna_start": 2317,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2296,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001407555.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2296C>T",
"hgvs_p": "p.Arg766Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394484.1",
"strand": false,
"transcript": "NM_001407555.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": 2352,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2296,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000902273.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2296C>T",
"hgvs_p": "p.Arg766Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572332.1",
"strand": false,
"transcript": "ENST00000902273.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 918,
"aa_ref": "R",
"aa_start": 765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3318,
"cdna_start": 2601,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2293,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001407556.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.Arg765Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394485.1",
"strand": false,
"transcript": "NM_001407556.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 918,
"aa_ref": "R",
"aa_start": 765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3416,
"cdna_start": 2699,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2293,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001407557.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.Arg765Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394486.1",
"strand": false,
"transcript": "NM_001407557.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 2428,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2407,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001407488.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2407C>T",
"hgvs_p": "p.Arg803Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394417.1",
"strand": false,
"transcript": "NM_001407488.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 883,
"aa_ref": "R",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 2204,
"cds_end": null,
"cds_length": 2652,
"cds_start": 2188,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000960681.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2188C>T",
"hgvs_p": "p.Arg730Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630740.1",
"strand": false,
"transcript": "ENST00000960681.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 881,
"aa_ref": "R",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3207,
"cdna_start": 2490,
"cds_end": null,
"cds_length": 2646,
"cds_start": 2182,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001407558.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2182C>T",
"hgvs_p": "p.Arg728Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394487.1",
"strand": false,
"transcript": "NM_001407558.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 850,
"aa_ref": "R",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2835,
"cdna_start": 2119,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000960679.1",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2089C>T",
"hgvs_p": "p.Arg697Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630738.1",
"strand": false,
"transcript": "ENST00000960679.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 2068,
"cds_end": null,
"cds_length": 2511,
"cds_start": 2047,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001252608.2",
"gene_hgnc_id": 11787,
"gene_symbol": "THBS3",
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Arg683Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001239537.1",
"strand": false,
"transcript": "NM_001252608.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
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