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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: 1-151097853-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151097853&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151097853,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001323910.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "NM_144618.3",
"protein_id": "NP_653219.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 448,
"cds_start": 473,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368918.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144618.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "ENST00000368918.8",
"protein_id": "ENSP00000357914.3",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 448,
"cds_start": 473,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144618.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368918.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "n.143A>G",
"hgvs_p": null,
"transcript": "ENST00000467551.1",
"protein_id": null,
"transcript_support_level": 1,
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000467551.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Glu174Gly",
"transcript": "NM_001323910.2",
"protein_id": "NP_001310839.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 464,
"cds_start": 521,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323910.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Glu174Gly",
"transcript": "ENST00000931884.1",
"protein_id": "ENSP00000601943.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 464,
"cds_start": 521,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931884.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Glu174Gly",
"transcript": "ENST00000947109.1",
"protein_id": "ENSP00000617168.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 464,
"cds_start": 521,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947109.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "NM_001323906.2",
"protein_id": "NP_001310835.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 452,
"cds_start": 473,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323906.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "NM_001323908.2",
"protein_id": "NP_001310837.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 448,
"cds_start": 473,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323908.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "ENST00000897349.1",
"protein_id": "ENSP00000567408.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 448,
"cds_start": 473,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897349.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "ENST00000897351.1",
"protein_id": "ENSP00000567410.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 448,
"cds_start": 473,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897351.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "ENST00000947114.1",
"protein_id": "ENSP00000617173.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 448,
"cds_start": 473,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947114.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "ENST00000947117.1",
"protein_id": "ENSP00000617176.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 448,
"cds_start": 473,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947117.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "ENST00000947119.1",
"protein_id": "ENSP00000617178.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 448,
"cds_start": 473,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947119.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Glu174Gly",
"transcript": "ENST00000897353.1",
"protein_id": "ENSP00000567412.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 426,
"cds_start": 521,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897353.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Glu174Gly",
"transcript": "ENST00000931883.1",
"protein_id": "ENSP00000601942.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 426,
"cds_start": 521,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931883.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.521A>G",
"hgvs_p": "p.Glu174Gly",
"transcript": "ENST00000947115.1",
"protein_id": "ENSP00000617174.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 426,
"cds_start": 521,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947115.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "NM_001323911.2",
"protein_id": "NP_001310840.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 414,
"cds_start": 473,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323911.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "NM_001323909.2",
"protein_id": "NP_001310838.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 410,
"cds_start": 473,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323909.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "ENST00000368916.1",
"protein_id": "ENSP00000357912.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 410,
"cds_start": 473,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368916.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "ENST00000897348.1",
"protein_id": "ENSP00000567407.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 410,
"cds_start": 473,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897348.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
"gene_hgnc_id": 28441,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Glu158Gly",
"transcript": "ENST00000897350.1",
"protein_id": "ENSP00000567409.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 410,
"cds_start": 473,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897350.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABPB2",
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
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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_score": 1,
"acmg_classification": "Uncertain_significance",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}