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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: 4-499374-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=499374&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 499374,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001127178.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "NM_001127178.3",
"protein_id": "NP_001120650.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 983,
"cds_start": 39,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000453061.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127178.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "ENST00000453061.7",
"protein_id": "ENSP00000415203.2",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 983,
"cds_start": 39,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001127178.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453061.7"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "ENST00000383028.8",
"protein_id": "ENSP00000372494.4",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 850,
"cds_start": 39,
"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": "ENST00000383028.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.-787A>G",
"hgvs_p": null,
"transcript": "ENST00000509768.1",
"protein_id": "ENSP00000421550.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": null,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509768.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "n.135A>G",
"hgvs_p": null,
"transcript": "ENST00000502311.1",
"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": "ENST00000502311.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "n.39A>G",
"hgvs_p": null,
"transcript": "ENST00000506402.5",
"protein_id": "ENSP00000424619.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000506402.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "NM_017733.5",
"protein_id": "NP_060203.3",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 975,
"cds_start": 39,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017733.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "ENST00000310340.9",
"protein_id": "ENSP00000311750.5",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 975,
"cds_start": 39,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310340.9"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "ENST00000868086.1",
"protein_id": "ENSP00000538145.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 913,
"cds_start": 39,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868086.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "ENST00000868087.1",
"protein_id": "ENSP00000538146.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 912,
"cds_start": 39,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868087.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "NM_001289052.2",
"protein_id": "NP_001275981.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 850,
"cds_start": 39,
"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": "NM_001289052.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "ENST00000936869.1",
"protein_id": "ENSP00000606928.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 664,
"cds_start": 39,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936869.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "NM_001345989.2",
"protein_id": "NP_001332918.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 612,
"cds_start": 39,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345989.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "XM_011513490.4",
"protein_id": "XP_011511792.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 930,
"cds_start": 39,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513490.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "XM_047415847.1",
"protein_id": "XP_047271803.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 701,
"cds_start": 39,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415847.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "XM_047415849.1",
"protein_id": "XP_047271805.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 624,
"cds_start": 39,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415849.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "XM_047415850.1",
"protein_id": "XP_047271806.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 619,
"cds_start": 39,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415850.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "XM_047415851.1",
"protein_id": "XP_047271807.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 611,
"cds_start": 39,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415851.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "XM_011513494.4",
"protein_id": "XP_011511796.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 547,
"cds_start": 39,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513494.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "XM_047415853.1",
"protein_id": "XP_047271809.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 539,
"cds_start": 39,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415853.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "XM_047415854.1",
"protein_id": "XP_047271810.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 539,
"cds_start": 39,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415854.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val",
"transcript": "XM_047415855.1",
"protein_id": "XP_047271811.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 488,
"cds_start": 39,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415855.1"
},
{
"aa_ref": "V",
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{
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},
{
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},
{
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],
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"gene_symbol": "PIGG",
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},
{
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],
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"exon_count": 3,
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"gene_symbol": "ZNF721",
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"transcript": "NM_133474.4",
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"mane_select": "ENST00000511833.3",
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"biotype": "protein_coding",
"feature": "NM_133474.4"
},
{
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],
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"gene_symbol": "ZNF721",
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"mane_select": "NM_133474.4",
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"biotype": "protein_coding",
"feature": "ENST00000511833.3"
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],
"gene_symbol": "PIGG",
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"dbsnp": "rs1553874002",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
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"gnomad_exomes_ac": 3,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.696,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001127178.3",
"gene_symbol": "PIGG",
"hgnc_id": 25985,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.39A>G",
"hgvs_p": "p.Val13Val"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_133474.4",
"gene_symbol": "ZNF721",
"hgnc_id": 29425,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-412T>C",
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}
],
"clinvar_disease": " autosomal recessive 53,Intellectual disability",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Intellectual disability, autosomal recessive 53",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}