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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: 13-95194891-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95194891&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 95194891,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005845.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "NM_005845.5",
"protein_id": "NP_005836.2",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 1325,
"cds_start": 1208,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645237.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005845.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "ENST00000645237.2",
"protein_id": "ENSP00000494609.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 1325,
"cds_start": 1208,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005845.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645237.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "ENST00000629385.1",
"protein_id": "ENSP00000487081.1",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 859,
"cds_start": 1208,
"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": "ENST00000629385.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "ENST00000967420.1",
"protein_id": "ENSP00000637479.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 1333,
"cds_start": 1208,
"cds_end": null,
"cds_length": 4002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967420.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1205C>T",
"hgvs_p": "p.Pro402Leu",
"transcript": "ENST00000967421.1",
"protein_id": "ENSP00000637480.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 1324,
"cds_start": 1205,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967421.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "ENST00000903573.1",
"protein_id": "ENSP00000573632.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 1295,
"cds_start": 1208,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903573.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "ENST00000932202.1",
"protein_id": "ENSP00000602261.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 1295,
"cds_start": 1208,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932202.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "NM_001301829.2",
"protein_id": "NP_001288758.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 1278,
"cds_start": 1208,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301829.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "ENST00000646439.1",
"protein_id": "ENSP00000494751.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 1278,
"cds_start": 1208,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646439.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "ENST00000932205.1",
"protein_id": "ENSP00000602264.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 1273,
"cds_start": 1208,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932205.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "ENST00000932204.1",
"protein_id": "ENSP00000602263.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 1261,
"cds_start": 1208,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932204.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "ENST00000903574.1",
"protein_id": "ENSP00000573633.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 1232,
"cds_start": 1208,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903574.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "ENST00000932203.1",
"protein_id": "ENSP00000602262.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 1208,
"cds_start": 1208,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932203.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "NM_001105515.3",
"protein_id": "NP_001098985.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 859,
"cds_start": 1208,
"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": "NM_001105515.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Pro328Leu",
"transcript": "NM_001301830.2",
"protein_id": "NP_001288759.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 784,
"cds_start": 983,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301830.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Pro328Leu",
"transcript": "ENST00000536256.3",
"protein_id": "ENSP00000442024.1",
"transcript_support_level": 2,
"aa_start": 328,
"aa_end": null,
"aa_length": 784,
"cds_start": 983,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536256.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Pro416Leu",
"transcript": "ENST00000645532.1",
"protein_id": "ENSP00000494431.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 668,
"cds_start": 1247,
"cds_end": null,
"cds_length": 2008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645532.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1079C>T",
"hgvs_p": "p.Pro360Leu",
"transcript": "XM_047430034.1",
"protein_id": "XP_047285990.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 1282,
"cds_start": 1079,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430034.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Pro220Leu",
"transcript": "XM_047430035.1",
"protein_id": "XP_047285991.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1142,
"cds_start": 659,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430035.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Pro403Leu",
"transcript": "XM_017020320.3",
"protein_id": "XP_016875809.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 830,
"cds_start": 1208,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020320.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "c.1162-6349C>T",
"hgvs_p": null,
"transcript": "ENST00000932206.1",
"protein_id": "ENSP00000602265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1291,
"cds_start": null,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC4",
"gene_hgnc_id": 55,
"hgvs_c": "n.*1241C>T",
"hgvs_p": null,
"transcript": "ENST00000642524.1",
"protein_id": "ENSP00000493766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"dbsnp": "rs11568705",
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"computational_score_selected": 0.007638782262802124,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.133,
"revel_prediction": "Benign",
"alphamissense_score": 0.0703,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.907,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
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"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_005845.5",
"gene_symbol": "ABCC4",
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"effects": [
"missense_variant"
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"hgvs_p": "p.Pro403Leu"
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],
"clinvar_disease": "ABCC4-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "ABCC4-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}