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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: 17-42950655-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42950655&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42950655,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001136042.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Arg393Arg",
"transcript": "NM_001261434.2",
"protein_id": "NP_001248363.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 412,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000427569.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261434.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1177C>A",
"hgvs_p": "p.Arg393Arg",
"transcript": "ENST00000427569.7",
"protein_id": "ENSP00000400870.1",
"transcript_support_level": 5,
"aa_start": 393,
"aa_end": null,
"aa_length": 412,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001261434.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427569.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES3L-AARSD1",
"gene_hgnc_id": 43946,
"hgvs_c": "c.1570C>A",
"hgvs_p": "p.Arg524Arg",
"transcript": "ENST00000421990.7",
"protein_id": "ENSP00000409924.2",
"transcript_support_level": 2,
"aa_start": 524,
"aa_end": null,
"aa_length": 543,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421990.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES3L-AARSD1",
"gene_hgnc_id": 43946,
"hgvs_c": "c.1699C>A",
"hgvs_p": "p.Arg567Arg",
"transcript": "NM_001136042.2",
"protein_id": "NP_001129514.2",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 586,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136042.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES3L-AARSD1",
"gene_hgnc_id": 43946,
"hgvs_c": "c.1570C>A",
"hgvs_p": "p.Arg524Arg",
"transcript": "ENST00000409399.6",
"protein_id": "ENSP00000386621.2",
"transcript_support_level": 5,
"aa_start": 524,
"aa_end": null,
"aa_length": 543,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409399.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES3L-AARSD1",
"gene_hgnc_id": 43946,
"hgvs_c": "c.1516C>A",
"hgvs_p": "p.Arg506Arg",
"transcript": "NM_025267.4",
"protein_id": "NP_079543.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 525,
"cds_start": 1516,
"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_025267.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES3L-AARSD1",
"gene_hgnc_id": 43946,
"hgvs_c": "c.1516C>A",
"hgvs_p": "p.Arg506Arg",
"transcript": "ENST00000360221.8",
"protein_id": "ENSP00000353355.4",
"transcript_support_level": 2,
"aa_start": 506,
"aa_end": null,
"aa_length": 525,
"cds_start": 1516,
"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": "ENST00000360221.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES3L-AARSD1",
"gene_hgnc_id": 43946,
"hgvs_c": "c.1426C>A",
"hgvs_p": "p.Arg476Arg",
"transcript": "ENST00000409103.5",
"protein_id": "ENSP00000386254.1",
"transcript_support_level": 5,
"aa_start": 476,
"aa_end": null,
"aa_length": 495,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409103.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1204C>A",
"hgvs_p": "p.Arg402Arg",
"transcript": "ENST00000871340.1",
"protein_id": "ENSP00000541399.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 421,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871340.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1174C>A",
"hgvs_p": "p.Arg392Arg",
"transcript": "ENST00000871341.1",
"protein_id": "ENSP00000541400.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 411,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871341.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1168C>A",
"hgvs_p": "p.Arg390Arg",
"transcript": "ENST00000935094.1",
"protein_id": "ENSP00000605153.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 409,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935094.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1096C>A",
"hgvs_p": "p.Arg366Arg",
"transcript": "ENST00000935095.1",
"protein_id": "ENSP00000605154.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 385,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935095.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1081C>A",
"hgvs_p": "p.Arg361Arg",
"transcript": "ENST00000871343.1",
"protein_id": "ENSP00000541402.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 380,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871343.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1060C>A",
"hgvs_p": "p.Arg354Arg",
"transcript": "ENST00000871338.1",
"protein_id": "ENSP00000541397.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 373,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871338.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1045C>A",
"hgvs_p": "p.Arg349Arg",
"transcript": "ENST00000871345.1",
"protein_id": "ENSP00000541404.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 368,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871345.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1030C>A",
"hgvs_p": "p.Arg344Arg",
"transcript": "ENST00000871344.1",
"protein_id": "ENSP00000541403.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 363,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871344.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1027C>A",
"hgvs_p": "p.Arg343Arg",
"transcript": "ENST00000871339.1",
"protein_id": "ENSP00000541398.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 362,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871339.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.988C>A",
"hgvs_p": "p.Arg330Arg",
"transcript": "ENST00000935096.1",
"protein_id": "ENSP00000605155.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 349,
"cds_start": 988,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935096.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.979C>A",
"hgvs_p": "p.Arg327Arg",
"transcript": "ENST00000935097.1",
"protein_id": "ENSP00000605156.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 346,
"cds_start": 979,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935097.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.340C>A",
"hgvs_p": "p.Arg114Arg",
"transcript": "ENST00000871342.1",
"protein_id": "ENSP00000541401.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 133,
"cds_start": 340,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871342.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "n.503C>A",
"hgvs_p": null,
"transcript": "ENST00000474578.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000474578.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "n.270C>A",
"hgvs_p": null,
"transcript": "ENST00000486493.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001136042.2",
"gene_symbol": "PTGES3L-AARSD1",
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"effects": [
"synonymous_variant"
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"inheritance_mode": "",
"hgvs_c": "c.1699C>A",
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{
"score": -1,
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"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
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"verdict": "Likely_benign",
"transcript": "NM_001261434.2",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Arg393Arg"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}