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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: 10-113729408-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=113729408&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CASP7",
"hgnc_id": 1508,
"hgvs_c": "c.1035G>C",
"hgvs_p": "p.Gln345His",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001267057.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.4948,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25028109550476074,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 847,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001227.5",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369318.8",
"protein_coding": true,
"protein_id": "NP_001218.1",
"strand": true,
"transcript": "NM_001227.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 847,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000369318.8",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001227.5",
"protein_coding": true,
"protein_id": "ENSP00000358324.4",
"strand": true,
"transcript": "ENST00000369318.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 336,
"aa_ref": "Q",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 879,
"cds_end": null,
"cds_length": 1011,
"cds_start": 879,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000621607.4",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.879G>C",
"hgvs_p": "p.Gln293His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478999.1",
"strand": true,
"transcript": "ENST00000621607.4",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000345633.8",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298701.7",
"strand": true,
"transcript": "ENST00000345633.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": 926,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000369315.5",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358321.1",
"strand": true,
"transcript": "ENST00000369315.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 968,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000621345.4",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480584.1",
"strand": true,
"transcript": "ENST00000621345.4",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 253,
"aa_ref": "R",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2380,
"cdna_start": 892,
"cds_end": null,
"cds_length": 762,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000369331.8",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Arg249Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358337.3",
"strand": true,
"transcript": "ENST00000369331.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 388,
"aa_ref": "Q",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1035,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001267057.1",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.1035G>C",
"hgvs_p": "p.Gln345His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001253986.1",
"strand": true,
"transcript": "NM_001267057.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 388,
"aa_ref": "Q",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1035,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000369321.6",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.1035G>C",
"hgvs_p": "p.Gln345His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358327.3",
"strand": true,
"transcript": "ENST00000369321.6",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 336,
"aa_ref": "Q",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1011,
"cds_start": 879,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_033338.6",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.879G>C",
"hgvs_p": "p.Gln293His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_203124.1",
"strand": true,
"transcript": "NM_033338.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 311,
"aa_ref": "Q",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2464,
"cdna_start": 967,
"cds_end": null,
"cds_length": 936,
"cds_start": 804,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001320911.2",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.804G>C",
"hgvs_p": "p.Gln268His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307840.1",
"strand": true,
"transcript": "NM_001320911.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 936,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001267056.2",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001253985.1",
"strand": true,
"transcript": "NM_001267056.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2418,
"cdna_start": 921,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_033339.5",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_203125.1",
"strand": true,
"transcript": "NM_033339.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2714,
"cdna_start": 832,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891217.1",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561276.1",
"strand": true,
"transcript": "ENST00000891217.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891218.1",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561277.1",
"strand": true,
"transcript": "ENST00000891218.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3103,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891221.1",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561280.1",
"strand": true,
"transcript": "ENST00000891221.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2749,
"cdna_start": 1252,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891222.1",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561281.1",
"strand": true,
"transcript": "ENST00000891222.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891224.1",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561283.1",
"strand": true,
"transcript": "ENST00000891224.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4575,
"cdna_start": 3085,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891225.1",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561284.1",
"strand": true,
"transcript": "ENST00000891225.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 912,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000959922.1",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.780G>C",
"hgvs_p": "p.Gln260His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629981.1",
"strand": true,
"transcript": "ENST00000959922.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 302,
"aa_ref": "Q",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2351,
"cdna_start": 856,
"cds_end": null,
"cds_length": 909,
"cds_start": 777,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000672138.1",
"gene_hgnc_id": 1508,
"gene_symbol": "CASP7",
"hgvs_c": "c.777G>C",
"hgvs_p": "p.Gln259His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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