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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: 22-24611208-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=24611208&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 24611208,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_013421.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "NM_001288833.2",
"protein_id": "NP_001275762.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400382.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288833.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000400382.6",
"protein_id": "ENSP00000383232.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001288833.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400382.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000400380.5",
"protein_id": "ENSP00000383231.1",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400380.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286070",
"gene_hgnc_id": null,
"hgvs_c": "n.*617G>A",
"hgvs_p": null,
"transcript": "ENST00000652248.1",
"protein_id": "ENSP00000499210.1",
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652248.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286070",
"gene_hgnc_id": null,
"hgvs_c": "n.*617G>A",
"hgvs_p": null,
"transcript": "ENST00000652248.1",
"protein_id": "ENSP00000499210.1",
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652248.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "NM_013421.3",
"protein_id": "NP_038265.2",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013421.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "NM_013430.3",
"protein_id": "NP_038347.2",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013430.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875906.1",
"protein_id": "ENSP00000545965.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875906.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875907.1",
"protein_id": "ENSP00000545966.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875907.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875908.1",
"protein_id": "ENSP00000545967.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875908.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875909.1",
"protein_id": "ENSP00000545968.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875909.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875910.1",
"protein_id": "ENSP00000545969.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875910.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875911.1",
"protein_id": "ENSP00000545970.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875911.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875912.1",
"protein_id": "ENSP00000545971.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875912.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875913.1",
"protein_id": "ENSP00000545972.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875913.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875914.1",
"protein_id": "ENSP00000545973.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875914.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875915.1",
"protein_id": "ENSP00000545974.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875915.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875916.1",
"protein_id": "ENSP00000545975.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875916.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875917.1",
"protein_id": "ENSP00000545976.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875917.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875918.1",
"protein_id": "ENSP00000545977.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875918.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875919.1",
"protein_id": "ENSP00000545978.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875919.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT1",
"gene_hgnc_id": 4250,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Met",
"transcript": "ENST00000875920.1",
"protein_id": "ENSP00000545979.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 569,
"cds_start": 127,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875920.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
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"gnomad_exomes_homalt": 0,
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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{
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"criteria": [
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
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{
"score": 4,
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],
"verdict": "Uncertain_significance",
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"effects": [
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],
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}
],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "gamma-Glutamyltransferase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}