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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: 17-68427175-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68427175&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68427175,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_017983.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.Thr384Thr",
"transcript": "NM_017983.7",
"protein_id": "NP_060453.3",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 446,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262139.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017983.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.Thr384Thr",
"transcript": "ENST00000262139.10",
"protein_id": "ENSP00000262139.4",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 446,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017983.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262139.10"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Thr385Thr",
"transcript": "ENST00000891619.1",
"protein_id": "ENSP00000561678.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 447,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891619.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.1044C>T",
"hgvs_p": "p.Thr348Thr",
"transcript": "ENST00000959788.1",
"protein_id": "ENSP00000629847.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 410,
"cds_start": 1044,
"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": "ENST00000959788.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.990C>T",
"hgvs_p": "p.Thr330Thr",
"transcript": "ENST00000891622.1",
"protein_id": "ENSP00000561681.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 392,
"cds_start": 990,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891622.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Thr329Thr",
"transcript": "ENST00000891620.1",
"protein_id": "ENSP00000561679.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 391,
"cds_start": 987,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891620.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Thr302Thr",
"transcript": "NM_001320772.2",
"protein_id": "NP_001307701.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 364,
"cds_start": 906,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320772.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Thr302Thr",
"transcript": "ENST00000546360.5",
"protein_id": "ENSP00000437345.1",
"transcript_support_level": 2,
"aa_start": 302,
"aa_end": null,
"aa_length": 364,
"cds_start": 906,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546360.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.879C>T",
"hgvs_p": "p.Thr293Thr",
"transcript": "ENST00000891621.1",
"protein_id": "ENSP00000561680.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 355,
"cds_start": 879,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891621.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.456C>T",
"hgvs_p": "p.Thr152Thr",
"transcript": "ENST00000591744.1",
"protein_id": "ENSP00000466270.1",
"transcript_support_level": 3,
"aa_start": 152,
"aa_end": null,
"aa_length": 205,
"cds_start": 456,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591744.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.768C>T",
"hgvs_p": "p.Thr256Thr",
"transcript": "XM_017024808.2",
"protein_id": "XP_016880297.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 318,
"cds_start": 768,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024808.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.-1C>T",
"hgvs_p": null,
"transcript": "ENST00000585393.1",
"protein_id": "ENSP00000465557.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 53,
"cds_start": null,
"cds_end": null,
"cds_length": 162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585393.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*44-1462G>A",
"hgvs_p": null,
"transcript": "NM_001352899.2",
"protein_id": "NP_001339828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352899.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*44-1245G>A",
"hgvs_p": null,
"transcript": "NM_001352902.2",
"protein_id": "NP_001339831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352902.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*44-1462G>A",
"hgvs_p": null,
"transcript": "NM_001352904.2",
"protein_id": "NP_001339833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352904.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*43+6669G>A",
"hgvs_p": null,
"transcript": "NM_001352905.2",
"protein_id": "NP_001339834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352905.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*44-1462G>A",
"hgvs_p": null,
"transcript": "NM_001352906.2",
"protein_id": "NP_001339835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352906.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1304-13526G>A",
"hgvs_p": null,
"transcript": "NM_001352910.2",
"protein_id": "NP_001339839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352910.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1256-13526G>A",
"hgvs_p": null,
"transcript": "NM_001352909.2",
"protein_id": "NP_001339838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352909.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.-7+13380G>A",
"hgvs_p": null,
"transcript": "NM_001278433.2",
"protein_id": "NP_001265362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278433.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*44-1462G>A",
"hgvs_p": null,
"transcript": "XM_047435633.1",
"protein_id": "XP_047291589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435633.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*43+6669G>A",
"hgvs_p": null,
"transcript": "XM_047435634.1",
"protein_id": "XP_047291590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435634.1"
},
{
"aa_ref": null,
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"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_017983.7",
"gene_symbol": "WIPI1",
"hgnc_id": 25471,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.Thr384Thr"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_001352899.2",
"gene_symbol": "ARSG",
"hgnc_id": 24102,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*44-1462G>A",
"hgvs_p": null
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "NM_001278433.2",
"gene_symbol": "PRKAR1A",
"hgnc_id": 9388,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-7+13380G>A",
"hgvs_p": null
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000592030.1",
"gene_symbol": "ENSG00000267009",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.647-1462G>A",
"hgvs_p": null
}
],
"clinvar_disease": "WIPI1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "WIPI1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}