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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: 10-113729369-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=113729369&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 113729369,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033340.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.707C>T",
"hgvs_p": "p.Pro236Leu",
"transcript": "ENST00000369331.8",
"protein_id": "ENSP00000358337.3",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 253,
"cds_start": 707,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369331.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "NM_001227.5",
"protein_id": "NP_001218.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369318.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001227.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "ENST00000369318.8",
"protein_id": "ENSP00000358324.4",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001227.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369318.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Ser280Ser",
"transcript": "ENST00000621607.4",
"protein_id": "ENSP00000478999.1",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 336,
"cds_start": 840,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621607.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "ENST00000345633.8",
"protein_id": "ENSP00000298701.7",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345633.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "ENST00000369315.5",
"protein_id": "ENSP00000358321.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369315.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "ENST00000621345.4",
"protein_id": "ENSP00000480584.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621345.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.707C>T",
"hgvs_p": "p.Pro236Leu",
"transcript": "NM_033340.4",
"protein_id": "NP_203126.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 253,
"cds_start": 707,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033340.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.707C>T",
"hgvs_p": "p.Pro236Leu",
"transcript": "ENST00000614447.4",
"protein_id": "ENSP00000478285.1",
"transcript_support_level": 5,
"aa_start": 236,
"aa_end": null,
"aa_length": 253,
"cds_start": 707,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614447.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.996C>T",
"hgvs_p": "p.Ser332Ser",
"transcript": "NM_001267057.1",
"protein_id": "NP_001253986.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 388,
"cds_start": 996,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267057.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.996C>T",
"hgvs_p": "p.Ser332Ser",
"transcript": "ENST00000369321.6",
"protein_id": "ENSP00000358327.3",
"transcript_support_level": 2,
"aa_start": 332,
"aa_end": null,
"aa_length": 388,
"cds_start": 996,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369321.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Ser280Ser",
"transcript": "NM_033338.6",
"protein_id": "NP_203124.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 336,
"cds_start": 840,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033338.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.765C>T",
"hgvs_p": "p.Ser255Ser",
"transcript": "NM_001320911.2",
"protein_id": "NP_001307840.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 311,
"cds_start": 765,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320911.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "NM_001267056.2",
"protein_id": "NP_001253985.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267056.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "NM_033339.5",
"protein_id": "NP_203125.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033339.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "ENST00000891217.1",
"protein_id": "ENSP00000561276.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891217.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "ENST00000891218.1",
"protein_id": "ENSP00000561277.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891218.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "ENST00000891221.1",
"protein_id": "ENSP00000561280.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891221.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "ENST00000891222.1",
"protein_id": "ENSP00000561281.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891222.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "ENST00000891224.1",
"protein_id": "ENSP00000561283.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891224.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "ENST00000891225.1",
"protein_id": "ENSP00000561284.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891225.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP7",
"gene_hgnc_id": 1508,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Ser247Ser",
"transcript": "ENST00000959922.1",
"protein_id": "ENSP00000629981.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 303,
"cds_start": 741,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959922.1"
},
{
"aa_ref": "S",
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{
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],
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"computational_score_selected": 0.022893011569976807,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.1044,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.068,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
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"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_033340.4",
"gene_symbol": "CASP7",
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"effects": [
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],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}