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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: 12-56355710-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56355710&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56355710,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_005419.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Leu127Leu",
"transcript": "NM_005419.4",
"protein_id": "NP_005410.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 851,
"cds_start": 379,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314128.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005419.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Leu127Leu",
"transcript": "ENST00000314128.9",
"protein_id": "ENSP00000315768.4",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 851,
"cds_start": 379,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005419.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314128.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Leu127Leu",
"transcript": "ENST00000922389.1",
"protein_id": "ENSP00000592448.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 859,
"cds_start": 379,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922389.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Leu127Leu",
"transcript": "ENST00000960656.1",
"protein_id": "ENSP00000630715.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 850,
"cds_start": 379,
"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": "ENST00000960656.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Leu123Leu",
"transcript": "NM_198332.2",
"protein_id": "NP_938146.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 847,
"cds_start": 367,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198332.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Leu123Leu",
"transcript": "ENST00000557235.5",
"protein_id": "ENSP00000450751.1",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 847,
"cds_start": 367,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557235.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Leu123Leu",
"transcript": "ENST00000922390.1",
"protein_id": "ENSP00000592449.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 847,
"cds_start": 367,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922390.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Leu123Leu",
"transcript": "ENST00000878611.1",
"protein_id": "ENSP00000548670.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 846,
"cds_start": 367,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878611.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Leu127Leu",
"transcript": "NM_001385114.1",
"protein_id": "NP_001372043.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 844,
"cds_start": 379,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385114.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Leu127Leu",
"transcript": "ENST00000878609.1",
"protein_id": "ENSP00000548668.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 841,
"cds_start": 379,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878609.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Leu123Leu",
"transcript": "NM_001385110.1",
"protein_id": "NP_001372039.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 840,
"cds_start": 367,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385110.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Leu123Leu",
"transcript": "NM_001385115.1",
"protein_id": "NP_001372044.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 837,
"cds_start": 367,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385115.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Leu123Leu",
"transcript": "ENST00000960655.1",
"protein_id": "ENSP00000630714.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 837,
"cds_start": 367,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960655.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Leu127Leu",
"transcript": "NM_001385111.1",
"protein_id": "NP_001372040.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 818,
"cds_start": 379,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385111.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Leu127Leu",
"transcript": "ENST00000651915.1",
"protein_id": "ENSP00000498876.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 818,
"cds_start": 379,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651915.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Leu123Leu",
"transcript": "ENST00000878610.1",
"protein_id": "ENSP00000548669.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 814,
"cds_start": 367,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878610.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Leu127Leu",
"transcript": "NM_001385113.1",
"protein_id": "NP_001372042.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 807,
"cds_start": 379,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385113.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Leu127Leu",
"transcript": "ENST00000698186.1",
"protein_id": "ENSP00000513598.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 807,
"cds_start": 379,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698186.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Leu127Leu",
"transcript": "ENST00000698193.1",
"protein_id": "ENSP00000513600.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 806,
"cds_start": 379,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698193.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Leu127Leu",
"transcript": "ENST00000960657.1",
"protein_id": "ENSP00000630716.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 755,
"cds_start": 379,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960657.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT2",
"gene_hgnc_id": 11363,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Leu127Leu",
"transcript": "XM_011538697.3",
"protein_id": "XP_011536999.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 859,
"cds_start": 379,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538697.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -21,
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"pathogenic_score": 0,
"criteria": [
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"BP7",
"BA1"
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"verdict": "Benign",
"transcript": "NM_005419.4",
"gene_symbol": "STAT2",
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"effects": [
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],
"clinvar_disease": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,STAT2-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection|STAT2-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}